HP:0001250: Seizure

Genes 2887

SMARCA4 TBC1D24 ND4 PRDM8 SLC1A4 ZBTB18 GYS2 TMEM94 SCN1B SETBP1 GAD1 GPHN TXN2 COG4 LSS PGM3 FXYD2 TRIT1 POMT1 FOXG1 GRN BCL10 CTNNB1 EEF1A2 NR2F1 CRADD GP1BB ANGPTL6 ASS1 HS6ST1 GABRA1 ADRA2B EXTL3 GDNF NDUFS1 SLC25A19 SEC24C CALM1 SUCLA2 ANK2 PAH NELFA GABRB3 NOVA2 NCAPD3 KCNQ1 CHN1 COG2 AP4E1 PEX11B PEX11B RYR2 FKRP TDP1 FRMPD4 CCDC141 WWOX NSD2 CYTB FBXL4 PCYT1A KRAS ATP5F1D TSEN54 TRIP13 FTSJ1 ERCC1 FEZF1 KCNH1 ARF1 RNU4ATAC FOXH1 PERP IKBKG SETBP1 BTD MAGEL2 GTF2E2 PEX10 CDK19 NF1 HEPACAM PRF1 NDUFS6 HNRNPH2 ASXL1 AHDC1 KCNJ6 SEC31A IRF3 MLH3 NECAP1 FTSJ1 GCDH PIGG C12ORF4 NSD1 TSC2 PLA2G6 SPINK5 PRPS1 LAMA2 WDR45 NAGLU KMT2A DLD SHROOM4 EMC1 C12ORF57 PPP2R1A KIF2A COQ2 GRIA4 PGAP2 TMEM67 ARX ATP6V0A2 CSNK2B EFHC1 KIF11 JAM2 ARSA SYNJ1 TRNP CDH15 KIF5C SUCLA2 RASGRP1 LYST FKRP UFC1 TWNK GDF6 NEUROD2 TSFM TMEM67 SPOP CACNA1H CUX2 DPYS GPT2 LETM1 ACTL6B SCN2A ATP6V1A SQSTM1 FAM149B1 PEX19 ABCA2 TRNI ACADM APP PEX3 PANK2 TRIO GLI3 PEX13 MAN1B1 HNF4A SCN2A NPAP1 RERE TANC2 KLLN ARNT2 KDM5B SLC13A5 KIF7 SNORD116-1 SRPX2 PEX19 SEMA6B TGFBR2 OSGEP IARS1 SVBP VPS13B ENG FTO GLI2 TRAPPC12 HLCS ATIC NOTCH3 HIBCH RARS2 HIC1 ANKRD11 IFNG SURF1 ARL13B TACO1 HERC2 TRNK ZFP57 GFM2 COL4A1 SLC9A6 TBK1 STT3B MKRN3 KCNJ10 ATN1 MYO1H POLG VDR OCLN ND5 CASK PIGO FAR1 TSEN54 F8 NDUFS7 ARHGAP31 PIGH RFT1 CDON KCNQ1 SCN8A FGFR1 NEDD4L BAP1 SIX3 SERAC1 CYP27A1 GALC SMARCB1 LMNB2 PRDX1 INSR WDR11 LAMA2 KCNMA1 PHGDH TRNV QDPR ADAMTSL2 PEX14 TMEM165 FAT4 SCN2A PRODH SNORD118 ZIC2 KMT2E DHX37 TRNK TUBB3 GABRG2 NFKB2 CAV3 ALDH3A2 CNNM2 PEPD ST3GAL3 PIGQ FGF8 STAT2 SHH COL18A1 STXBP1 SON SLC25A22 GALC HMBS RET COG2 TPP1 NODAL JAK2 PCDH19 BUB1B EIF3F ERAP1 GRIA3 SMC1A CLN8 EIF2AK2 CC2D1A ADD3 MTFMT GAS1 SLC25A13 MAPK8IP3 TMEM231 ARX PRTN3 FLNA PIGN AKT2 NTRK2 RAB11B TRNF TDGF1 HTRA2 B4GAT1 VCP DYRK1A HCFC1 DNM1 BCOR FLCN NHLRC1 NAXE CTH PIGQ XK IL12A IDH2 PLK4 PLA2G6 CDKN1A HCN1 TUBB2A RORB ARL3 TBX19 CASQ2 TBCE NDUFV2 LMAN2L MTHFR GABRA1 TRNL1 GABRB3 ZEB2 RPL10 COX1 FRMPD4 ARCN1 TUBB2B NUP107 CENPJ COL13A1 ACSL4 MDH1 HSD17B4 EGF BUB3 GJA1 CACNA1B LIG4 LARP7 NTNG1 GRIK2 ANKRD11 ZBTB18 ALG11 TREX1 APP NF2 CCDC88C HUWE1 COA3 CD96 SEPSECS PSAT1 DLG4 COL4A1 TMEM237 EIF2B5 MSX2 SLC2A1 NRXN1 KCNQ2 CDKL5 TULP1 CTSA GBA SLC35A2 PIGK PQBP1 CPS1 PTS CIT ERLIN2 XPA ANKH RELN OFD1 CDK13 VARS1 SETD5 SYNGAP1 DPAGT1 PPP3CA CNTNAP2 COX7B APC2 GDF2 TRMT10A FBXO31 ALDH18A1 LAMC2 ACTL6A TBC1D24 D2HGDH PEX26 MMUT LRPPRC TRAF3IP2 GP9 KATNIP APP ALDH7A1 HCCS PIK3R2 SMARCB1 CTNNA2 PPM1B UPF3B PIGV NSDHL SLC33A1 STX1B GMPPB TRNQ RRM2B SYNJ1 GLI3 BCL11B ALG1 KIF15 TDGF1 ATR PMM2 SGSH KCNJ11 TANGO2 USP7 ARX TRNS1 MLYCD CTSA NLGN4X IL17F SCN10A SLC13A5 SHANK3 ACSF3 SLC35A2 ZNF711 PHOX2B HK1 NAGS ADPRS FLI1 ETHE1 CLCN4 TBR1 PEX19 PEX12 SETD1A CDK8 INS CC2D2A HNF1A MED12 MAP2K1 GJC2 PEX14 SYNGAP1 NFIA PAFAH1B1 PGK1 MOGS FIG4 EPM2A TBL1XR1 SMG9 SNRPN HSPD1 SLC6A8 VAMP2 FOXH1 NDUFAF5 EOGT PAFAH1B1 PHF6 FARS2 ACTA2 ND1 GPHN GPR161 NAXD NDUFS4 TRIP12 ARF1 PTEN PHOX2B SLC20A2 GUF1 SMAD4 EIF2B2 ACY1 PRNP SOX3 FMN2 WAC ADAM22 CHRNA2 PHACTR1 NTNG2 NDUFB8 SDHA FGFR2 FGF17 TRNW CARS2 WFS1 IFIH1 KRAS COA8 PSAP DHCR7 PEX1 PEX12 FBP1 AARS1 TREM2 PTCH1 MEN1 CLCNKB SLC35A1 PROK2 CKAP2L TRAPPC2L CC2D2A RAC3 AVPR2 BPTF COX10 PIK3CA UBA1 CLCN4 SAMD12 MED17 PLAGL1 ARMC9 GABRG2 ATXN10 GAS1 SMARCE1 LAMC3 GALC ERCC5 RERE LHX4 ERLIN2 TRNV HYMAI CACNA1C MKS1 ARHGEF9 SHH MEFV ACVRL1 ATP1A3 STAG2 CDON DOLK AKT1 FAM149B1 NNT CCDC88A RPE65 NFIX DEAF1 PEX2 HADHA PAH TRNF PIGL DALRD3 SATB2 PHGDH SLC12A5 PSAP PEX12 TAF1 NALCN PDE4D TRAPPC11 FA2H SDHAF1 ALDH7A1 PIGW TGFBR3 PODXL TGIF1 RAB39B COQ6 LARS2 ATN1 SMC3 RPS6KA3 LIPT2 PROKR2 MECP2 APC2 ARHGDIA GCK SMARCC2 FGFR1 ATAD3A PQBP1 PPOX EARS2 GLUL PET100 IL1RAPL1 TUBA8 TPRKB RAB3GAP1 ISCA1 GLRB TDGF1 MEIS2 GUCY1A1 KCNJ11 ASNS FARS2 PEX6 TSEN15 TRNW GLYCTK SCN9A METTL23 STRADA CERT1 ARX TGIF1 NOTCH3 WDR4 EHMT1 NOS1AP RPGRIP1L TRNK CEP120 WDR81 CNOT1 ANO10 CLCN2 MEF2C UBE2A ATP6AP1 RPGRIP1 TUBGCP6 CEP290 INTS8 CACNA1A WDR26 TMX2 DNMT3A UBTF TANGO2 CEP290 SDHB ADSL NUBPL SET MARCHF6 RARS1 CISD2 ATP5F1A DHCR24 GCM2 MFSD2A HTRA1 MID2 THSD1 SMC1A GOT2 KCNT2 HPRT1 TUBGCP4 NTRK2 SVBP ALDOB NSD1 DLL1 AP4M1 CPA6 GNB5 PUM1 CHD2 CNKSR2 PDE10A ENG TBCE TRNS2 KDM6A UNC80 CASP10 PPP3CA TUBG1 KCTD7 KIF1A TRNT POGZ FOXH1 PROK2 TRNL1 PIGP PEX11B DYNC1I2 KCNA1 NODAL HESX1 SPR MECP2 ANKRD11 CACNA1A ALX4 TBC1D23 RAB39B CIC COX10 SCN8A POMT2 LAMA2 RNU4ATAC SMARCB1 GRIN1 NDUFA2 STXBP1 BCOR HADHA ALG13 GRIN2B DNMT3A HTT KIF11 ADK MCCC2 CPS1 PCLO RAB18 PEX5 CHD2 CYP27B1 AVPR2 CPLX1 ATP6V0A2 CACNA1C NSDHL DMD GNB1 SRPX2 DPF2 STAG1 RLIM UBE3A ZFYVE26 CDK10 FKTN SCYL2 MSX2 DISP1 PEX13 GAS1 RPGRIP1L JAM3 AIMP2 TLR3 SCN11A TCTN3 CLCF1 CRADD ANKLE2 ISG15 TP53RK TCF20 IL17RA MAN1B1 UFD1 C9ORF72 GABRD FRA16E CPLANE1 TSC1 DLL1 TRMT10A TUBB4A TXNRD2 EIF2AK3 L1CAM AKT1 POLE ARID1A NACC1 NHLRC1 B3GALNT2 GABRB2 ABCC9 FBXO11 FAN1 FOXG1 PMPCB LNPK RORA RAB27A MSH2 DEGS1 HERC1 KCNA1 SYN1 SDHC CDON PTCH1 PDCD10 TBX1 PREPL MED12 TMEM67 INPP5E MYORG CHMP2B CCBE1 USP9X LRP2 PWAR1 SMARCA2 MECP2 TMTC3 SCO1 KIF5A DCC GFM1 PIK3CD ACTB PHOX2B BRAF CACNA1B ERMARD LHX4 PSMB8 VAMP1 NTRK2 DHDDS TCTN1 FCGR2A CLN6 MAPRE2 AKT3 EBP RAD21 LMNB2 GPC4 DNAJC5 ARHGAP31 CEP164 TREM2 YEATS2 CSNK2A1 TRPM6 GLI2 CPT1A SLC13A5 HIVEP2 TBCD PEX26 SCN9A WDR26 DISP1 SZT2 SIX3 FLRT3 TDP2 KATNB1 FGF8 AP4M1 PSAP GABRA5 SMARCE1 BCR POLG WDFY3 ATAD1 PRPS1 DCX GP1BA TRNS2 TK2 PIGB DNASE1 NIPBL KIF1A POU1F1 CEP41 TSEN54 PRRT2 AP4B1 ARMC9 CHD1 DDX3X SCN1A HTT SDHA DPM1 TUBB2B XPR1 IFIH1 ROGDI TK2 SYP SPG11 ND1 APP BCORL1 GPAA1 ZEB2 NODAL TUBGCP6 CLCN2 LETM1 RRM2B DNAJC6 USP9X CLDN16 MAFB BMP4 L1CAM GAMT PEX3 TBCK SLC13A5 FMR1 COX6B1 PLAA MFSD8 OCRL UBAC2 COX1 SORL1 CEP104 RAI1 NDE1 GNE NGLY1 SLC35A3 SAMD9 BUB1B HEXA EZR DDOST PIGW CRB2 PEX1 SIK1 GMPPB LAS1L DHDDS MMACHC MORC2 RERE LGI1 KCNQ3 ALMS1 AQP2 HDAC8 TRAPPC11 ALDH18A1 KCNQ2 ERCC6 JRK FKRP ASH1L TWNK PUF60 TBC1D24 TRNK RANBP2 SNTA1 CASR STT3B TYROBP ARID1B SPR FLVCR1 OCLN KRAS DOCK3 USP7 SUMF1 PROKR2 CCBE1 GCK PIK3CA STX11 DCX IRAK1 CPLANE1 ARX STAG2 PEX6 SLC6A19 SOX10 ECE1 KCNQ3 LRAT HTT POLA1 POLR3A GOSR2 MTOR PPP2CA SEC23B GJC2 TRNP SLC39A8 CLTC AMPD2 ASAH1 PIGP EML1 HYMAI ALG13 PIBF1 HMGCL HNRNPU KCNT1 NDUFA11 SLC25A12 PLA2G6 HSD17B10 SETD2 RPS6KA3 KCNB1 PPP2R1A L2HGDH CLPB TECR NDUFA12 ABCC8 CPT2 KNSTRN CBS TMEM216 CDON NDUFA4 SPTAN1 PACS1 PSEN1 NNT MAPT GUCY2D KMT2D GRIN2A NDUFB11 FRRS1L ATAD3A HAX1 NUS1 CTNNB1 MEGF10 GABBR2 AUH CKAP2L MKRN3-AS1 TCF4 SLC25A1 USP45 NOTCH1 ERCC4 AARS1 ANK3 AIFM1 LARGE1 SMPD4 HLA-DPA1 ABAT SURF1 GNAQ PTS PEX16 PTPN22 OTX2 CLPB NDUFA2 EPRS1 DPM2 COX7B THOC2 PIGN ND3 SMC1A SCN3A PEX1 AP2M1 GLB1 TRNN SUFU AIMP1 PSAP KLRC4 RHOBTB2 COG7 PCCA TSC1 USP9X KCNC1 PDCD10 PIGU SMC1A MEN1 ASCL1 NDUFAF6 HMBS CAMK2A GBA PPP1R15B FGF8 HLA-B CTU2 STAT4 SETD2 RELN ATP6V1B2 AMER1 TMEM216 MEN1 NDUFS1 BMPR1A PDGFB KIAA0753 ATP6V0A2 ZNF423 ARVCF ERCC5 AKT3 PMS1 IQSEC2 PEX16 MTFMT ALDOB PGAP2 CRB1 TMLHE GRM1 POGZ ROGDI NDUFS2 KCNJ11 EHMT1 ATP1A2 KLHL7 SCN1A ZIC2 RECQL4 RPS6KA3 KCNMA1 NDUFS8 SIM1 DLG3 LARS1 BRAT1 FUCA1 SERPINI1 CFH SLC25A20 SDHD KRIT1 COL3A1 ADAR WHCR SLC9A6 PEX26 DOCK7 TRNQ SMARCE1 LIAS ESCO2 TUSC3 SARS1 AP3B2 ATAD1 GLS CACNA1A TIMMDC1 POMT1 UBE2A MBTPS2 PSPH TBC1D24 FGFR3 OFD1 ARG1 ANOS1 SLC2A1 POMGNT1 NPRL3 MRPS22 KRIT1 FGFR1 CTSD DMXL2 EEF1A2 IL17RC FLNA DLG3 NSMF KDM6A TRIM8 ALG2 RPS6KA3 ALAD GABRA2 MTHFD1 FDFT1 DARS2 PHACTR1 CNPY3 PIK3R2 GLRA1 KCNMA1 GNAO1 GPSM2 GLI2 GLI2 VLDLR GTPBP2 IL10 COX3 SMPD1 GRIN2A POMT2 ECHS1 TRIP13 WWOX EZH2 PEX13 GABBR2 MCTP2 SCN8A FGF8 COX8A WASHC4 MAGEL2 SLC19A3 RAB18 NSUN2 DNAJC19 EP300 GLRA1 EFTUD2 NDUFB11 ENG NDUFAF6 TRAPPC4 CLP1 TUBA8 PRDM8 NDUFV1 PDE6D ZSWIM6 AP1S2 SDHAF1 GRM7 SLC19A3 HACE1 L1CAM CDH23 TDGF1 LGI4 SOX11 RUBCN HCN1 ERCC6 IL17RD CHRNA4 SMARCC2 TERT COX2 ARID1A MVK PURA CREBBP DHDDS NKX6-2 TRAPPC9 POMK EIF2B4 PEX3 CHRNA7 NEXMIF MTR SLC16A1 NANS NF2 ATP6V1B2 NADK2 DNM1 SLC19A3 GNE FAS RNASEH2A MPDZ TGIF1 OSGEP GLUD1 SMAD4 BSCL2 RNR1 HNRNPU L2HGDH NEUROD2 ARHGEF9 NLGN3 LAGE3 NEDD4L SLC25A15 FADD SLC5A7 NUS1 KCNA2 IQSEC1 AKT2 PGAP3 FIG4 PDX1 TDP2 HS6ST2 METTL23 CASQ2 TP53RK ADAT3 SMC3 POMT1 RAC1 STAG1 CUL4B STAT4 IREB2 POMGNT2 GBA PROKR2 GATA3 KLF13 GABRB2 GMPPB MEF2C KMT2C PEX1 VPS13A ALG11 AGTR2 ATP1A1 KDM6A ALDH5A1 SPRY4 SZT2 EFHC1 CUX2 TACO1 ALG13 CLN3 BCKDHA RPGRIP1L CTSF SLC6A5 KRAS TLR4 ERCC8 ETHE1 UPF3B ARV1 PEX19 XPR1 PEX3 MRM2 TRNC CACNA1E EDN3 ERCC6 MED12 SCN1B AIMP1 CTBP1 ADGRV1 IBA57 TBC1D20 TBCD CXCR4 PWRN1 ADAT3 TBX1 CENPE LAS1L MC1R MPL STX16 C4A ACSF3 TREX1 CAMKMT SLC25A22 TBX19 KANSL1 CHD8 CHD7 EDC3 PCCB TSC2 SLC9A7 SETBP1 STAMBP PEX10 VLDLR MVK IMPDH1 SLC17A5 TRAPPC11 FGFR2 TRIM71 PNKP DDX3X POLR2A RNF113A MECP2 SLC46A1 CLIC2 MAF SCN1A ALG9 KAT8 ARSA EMG1 NOTCH2NLC MED12 CDKN2B VPS11 ZC3H14 PGAP1 PEX10 STX1B ZNF81 ZC4H2 PEX5 DLD NAGA OTX2 RSRC1 GTF2H5 SCN9A PCK1 PRDM16 IDS ATP1A2 COL3A1 IKBKG GBA ITPA TRNS1 GBA CRIPT CAMK2A DPYD DOCK6 DISP1 LMAN2L IVD RNASEH2A KCNA2 TRIO NDUFA10 SLC25A22 PEX5 DCC ARX HERC1 NRAS SHANK3 MTHFR TRAF7 ECM1 CHRNB2 CNKSR2 NRAS EXT2 USP27X KCNH2 EEF1A2 CEP290 COX15 PIGO MMADHC FGFR3 MANBA SLC2A1 RALGAPA1 CLEC7A EGF WDR37 TARS1 SCN2A NSD2 FOXRED1 PTH STXBP1 FDXR POMC EXOSC9 SYNJ1 CNTN2 CAMK2B ATP1A3 NPC1 MYO5A PIGA DPAGT1 DHFR HLA-DPB1 UPB1 FTL POMK GPC1 SOX2 AUH SCN1B NFASC OCRL TMTC3 SPAST PTF1A TRAPPC6B GLS PSPH INPP5K LRP2 FBXW11 NAT8L CHRNA7 FCSK MYO5A KRAS ASXL3 RANBP2 SPATA5 LYST KIAA1109 ASPA TICAM1 MBD5 TUBB3 BTD SELENOI MED25 SNX14 SMS ATP5F1A CTLA4 ECM1 STS CXORF56 VPS11 NDUFAF4 KCNJ6 FOXH1 MECP2 GABRA2 LMBRD1 GLUD1 SYN1 STT3A NAGA PET100 ACTG1 SLC2A1 TRAK1 TRNQ TOE1 NOTCH2NLC AIP HERC2 TRAK1 CACNA1D WDR73 COL18A1 PTCH1 SCN1A EPG5 TLK2 ALG3 GAS1 BCS1L PLPBP STAG2 HIBCH TREX1 BCOR KCNJ1 TRNH FBP1 PTPN22 MRAP POMGNT1 SLC46A1 HGSNAT SLC2A1 ERCC3 FLVCR2 GM2A UFM1 CRPPA CDH23 TWIST1 GNAO1 AMT HMGCS2 FGFR1 TREM2 MIPEP NODAL NUP214 GBA ADA2 SCN3A ATP2A2 CLN6 NAGS HESX1 KMT2A GUF1 CPT2 RAC1 DISP1 ADGRG1 POU3F3 ATP6AP2 AHSG PIGM HCN1 TMEM70 NTRK2 RBM10 NDUFV1 PLCB1 PEX1 PIGG CYP2R1 NIPA1 ARID2 NRROS ST3GAL5 GDI1 PDGFRB ACADSB FASLG GABRD CFHR3 SLC6A8 PTEN PLP1 CARS2 MAP1B COX14 THPO TDGF1 AMACR PSEN1 KIF7 AQP2 MPDU1 NPHP1 GDI1 NDUFA13 NRAS CYTB PEX5 ATAD3A FGF8 PIGC STXBP1 BRAF NEU1 COQ2 POU3F4 CYB5R3 PCDH19 SCARB2 PDHA1 PRUNE1 MTHFS PSAP ERCC2 GABRB3 LARGE1 WDR73 ARX PHF21A NIPBL GABBR2 CYB5A SNORD115-1 POMK SRPX2 ACO2 PHF6 ACADS ACOX1 MBD5 SLC6A1 ATP1A3 RPL10 ZBTB20 DBT KCNB1 WDR11 MTRR PEX2 WAC STAG2 STXBP1 ARL6IP6 GNAS PSMD12 DNM1 FLI1 ADSL MYRF NDUFA1 ITGB6 HPD SLC12A6 RAB27A SON NSUN2 ABCC8 B3GALNT2 PIK3CA YEATS2 SLC17A5 ZNHIT3 CDK5 CAMTA1 DSTYK GRIK2 ATP6 ABCA5 HLA-B NARS2 CA8 MC2R RNASEH2C PLAA STXBP1 RBM8A ST3GAL3 FAM50A UGDH ATIC BCS1L TRMT1 HDAC8 TLR3 DCPS PAH GRIA3 LONP1 HADH RNU12 SC5D RPIA PNKP OFD1 TMEM231 RAPGEF2 TSC1 SURF1 ARV1 FMR1 HNF1B AP3D1 BCKDHB DHPS FA2H PEX6 ZIC2 WARS2 SC5D COQ8A PTEN SCN8A PRMT7 SLC2A3 FGFR2 ZIC2 GTPBP3 PGAP1 KCNC3 GLDC KCNJ10 CEP85L GPC3 NDUFAF3 AP3B2 PEX16 AGA PPT1 IQSEC2 PCNT CFHR1 B3GALNT2 PDSS2 PIK3R2 MFF NDN FOXP3 POMC COG5 BCKDK SOX10 DNM1L OSTM1 AKT1 DISP1 GSS TRAPPC4 RNF213 PTCH1 CRLF1 SCN2A ALDH3A2 NF1 COL1A2 GLI2 COL4A2 YWHAE NSUN2 TRRAP IL23R ALG6 BOLA3 SLC12A6 MGP SLC25A4 PRRT2 DOCK7 CTC1 DHCR7 ZMIZ1 PRRT2 XPC CLTC SNRPN DPH1 KDM6B GNAS FKTN SCN10A PRNP STT3A KCNMA1 CHAT ARX KCNQ3 TBCE GNAQ CNPY3 ALG2 SH2B1 CDC42 TASP1 FOXA2 CDH2 CYP27A1 SLC18A3 CBS LCA5 ANK3 ACAT1 KAT6B NDUFB8 RUBCN KCNA2 PROP1 PRKAG2 DHX30 RTTN CHKB CDK19 MED25 PEX10 CCND2 MVK COG4 PTPN23 ACTL6B SMS RREB1 KPTN MED25 RTTN PROP1 CEP57 B9D2 PSEN1 NEK9 YWHAG CILK1 FBLN1 TBCE MLX KMT5B ZNF592 FUCA1 CPLX1 CEP41 PIGC ZNHIT3 TBX1 PIGT ALG1 GEMIN4 CASK TUBA1A GCH1 ERMARD NIN PIK3CA GK CC2D2A CDH11 COLGALT1 EFHC1 NIPA1 PTEN PTRH2 ATM COX20 KDM5C FLNA RELA GCDH RAI1 RMND1 MED13 HRAS KAT6B POLA1 PNPO SCN2A TBP FAM111A SCN4B WDR4 PTRH2 PIGL SPP1 FKTN PEX7 TP53 ADA2 ACTL6B FAM111A CPT2 FGFR1 SLC45A1 GYS1 GATAD2B LBR ASPA KCNE1 NUP133 ERCC3 TRPV3 MED23 EPM2A PRKCD POMT1 TXN2 OTUD6B PNPLA8 ROBO3 MACF1 RAI1 SCN1B INSR CRLF1 PI4KA GNAS MYT1L HDAC8 EPCAM CRBN TP53 ATP6V1A SPATA5 KAT6A DGUOK GABRG2 IQCB1 WDR62 PSMD12 MAST1 ATP6AP2 SIN3A HLCS NEU1 UBA5 CACNB4 NAA10 SHROOM4 ATRX POLG2 MTOR PSAP SLC12A3 PIGA CLTCL1 CPT1A GABRG2 TGIF1 ARID1B PSMD12 POLG2 PIGN RAB39B UBE3A ERLIN2 GRIN1 CSPP1 ARFGEF2 FAM111A TSC2 CAD VPS51 HCCS BDNF CARS1 THOC2 PRRT2 CPT2 DHX16 GM2A SKI RPS20 NRAS SCN9A KCNA1 KCTD7 INPP5E BPTF TRNF AP4S1 FKTN NDUFS2 TFAP2A LAMB1 SSR4 COMT IFT140 INPP5E PAK3 ASAH1 DYNC1H1 FITM2 ACY1 GLA CACNA1A NOS3 BRAF PIGV ATRX KCNJ5 ATP1A2 LAMB3 PCSK1 DEPDC5 ANK1 PIEZO2 SLC25A15 NDUFS8 GABRG2 ACTB PTCH1 FGF12 CCM2 NPRL2 POMT2 UBA5 PHKA2 GABRA5 TBC1D20 GRIN2B DENND5A SNAP29 PAFAH1B1 FOXH1 TREM2 PEX6 PAX2 HADH MAPK10 MBTPS2 FLII PRRT2 ATP6V1A PHKG2 MDH2 SLC12A5 CDKL5 MED13 SMARCA4 SP110 VPS13B TCTN2 KCNK4 AP2M1 ARSA PMM2 BRAT1 CLIP1 ALPL ELMO2 ACP5 KCNQ2 POLG STAT3 PEX26 MGP TNIK SRD5A3 UNC93B1 DLL1 DYRK1A SHH SGPL1 NDUFAF3 EP300 TREX1 CLIC2 MSH6 FAR1 LSS TBCK GLI3 GRIN2A FGFR1 SIN3A SMARCA2 CCNQ BUB1 ALDH5A1 ABCC8 GLRX5 SARS1 GABRG2 ALKBH8 PC NF1 OTC POMT2 DHCR24 DNM1L ARID1B NDST1 NUP133 PEX6 POMGNT1 IQSEC2 MAPK1 MICOS13 GRIN2B SOX5 ATP6V1A COQ8A KCNJ11 ASPA SYT2 DOCK6 PIK3CA DLL1 CCR1 TRDN HIRA IER3IP1 JAM2 SARDH GMPPA HEPACAM NHLRC2 NECAP1 TGFB1 TBC1D24 MOCS2 TELO2 SSR4 FGFR3 COQ4 ADGRV1 TBK1 CTLA4 MAN1B1 KCNT1 ARX PYCR2 ERCC2 KDM5C MKS1 SH2B1 ZIC2 CDC42 TRNS1 CAMTA1 PTEN PSAP NONO DPM2 MID2 DMXL2 MICAL1 PRRT2 ACADM LINS1 ZNF41 POLG DLL4 PSAT1 UBTF ERCC8 LAGE3 SPTAN1 USP18 DDB2 BMP2 FCGR2B SIX3 CALM3 ACTL6B CYP27B1 DIAPH1 GATA4 LAMA3 KMT2E TIMM50 GMPPB MTOR CDON TMEM106B CILK1 KAT6A ALG3 TAF1 AVPR2 SLC1A3 STRADA GNAQ TTR PAK1 ABCC8 FOLR1 NUS1 RNF125 CRBN MTRR EXOSC3 COX3 MTO1 DLL1 DEAF1 FGF8 HCFC1 NDP LARGE1 MANBA MECP2 KMT2D PPP2R5D WARS2 CASK SLC44A1 NMNAT1 EFHC1 TRNL1 KCNE2 ELOVL4 JMJD1C IARS1 TRNT1 NIN FRRS1L FADD ZMIZ1 CREBBP GMPPB HECW2 DIS3L2 AGA HRAS HYLS1 BAP1 WDR45 COX2 SLC25A20 KIAA0586 SIX3 SDHA PLPBP TUBB2B MCCC1 SYNGAP1 PCDH12 EFTUD2 IRF2BPL MN1 ACTG1 SOX4 ALX4 MFF SETD5 ZNF142 ATP6 NECTIN1 SLC2A1 TWNK MGAT2 GABRD ERCC4 MOGS TOMM40 GTPBP3 TCF4 VPS53 OTX2 PEX2 SCN3A TRNK OTUD6B CCM2 MMAA GRIA2 CACNA1D PEX2 MBOAT7 AIFM1 SETBP1 ASL EPG5 SIX3 CYFIP2 FKRP GLA NDUFAF5 PEX13 SIK1 ND1 CUL4B SLC1A4 SHH SDHD CYP26C1 MECP2 ANTXR1 ABCD1 ND6 DDX6 PSAP SCN2A DEAF1 B3GLCT ATP6V1E1 ADGRG1 CPOX TRDN TWNK AKAP9 TBC1D24 DLL1 GABRB1 ARHGEF6 KCNQ2 NBAS DBH SCN1B FGFR3 TYROBP ATN1 LIPT1 FH SLC19A2 GRIN2A TRNS1 RAB39B MARCHF6 LINGO1 DUSP6 AHI1 ERMARD SPATA7 MECP2 FGFR1 PLAGL1 STAR CREBBP NDUFAF2 PDSS2 OPA1 GAL GBA MBTPS2 DALRD3 GNAS GAMT RXYLT1 GATA6 WFS1 CASK ATXN10 ND4 ALPL CDKL5 TBCE NDP GBA SUFU NF2 NAA10 ATP7A TSC1 FAS AASS TSPAN7 GJA1 GNAS MAF PSEN2 GRIN2D TBL1XR1 PROC WASF1 TCIRG1 EXTL3 CLN8 EIF2B1 ND6 PRODH BCAP31 ZDHHC9 MYO5A PUS3 ADARB1 MED12 NEU1 CDKL5 TRNH SLC3A1 CERS1 PDGFB RELN ATRX TRAPPC11 PLCB1 AUTS2 NFIX PEX12 NDUFS7 NEK1 TWNK RPL10 CHD2 RNASET2 SLC25A42 SMARCB1 SEMA3A SMARCD1 ALDH4A1 CNTNAP2 MOCS1 SLC5A6 SRPX2 ABCC8 SLC2A1 SLC1A2 TRMT1 PTCH1 ATP8A2 LMX1B ASAH1 CPLX1 NDE1 GAS1 NDUFS3 CNTNAP1 TRAPPC9 TRAF7 ROBO1 GJC2 TCF4 ERCC6 RNASEH2B FKTN PIGY NEU1 HESX1 GPT2 NEXMIF PGAP3 NDUFA9 SLC1A3 MECP2 TGIF1 CDKL5 PLA2G6 SCN1A KCNJ11 PTCHD1 TECPR2 ERCC8 OSTM1 ACVRL1 SLC1A2 POLG SAMHD1 MSL3 GP1BB PYCR2 PLK4 KPTN PCYT2 PIGY ATP7A FARSB UCP2 SALL4 CHD1 PACS1 GLI2 AHI1 CCDC141 GABRA1 PEX14 ND5 CRKL COX15 SLC12A3 LHX1 NDUFAF8 GLI3 ATP6AP2 TRNL1 PHF21A RBPJ AFG3L2 MLH1 MLC1 NALCN MC2R PNPO POLR3A DYRK1A IL12A-AS1 UQCC2 CNNM2 SIK3 SMO CDKN1B GABRA1 KIFBP SDHA DNM1L KCNH1 PAK3 KCNQ2 TCF20 SCN8A SLC25A10 FA2H TDP1 TMEM138 PARS2 IQSEC1 ADNP GNB1 NACC1 KCNN3 RDH12 SCO2 C11ORF95 CD96 NDST1 GPHN GALNT2 AP4B1 PROKR2 ADGRG1 PIGT PIGS FGFR3 KIF4A CLP1 TGDS ODC1 POMT2 SCN1A MYH14 CLPP CEP120 RSRC1 GYS2 BRAF PRSS12 AP4E1 METTL5 SIK1 TP53 TSC2 P4HTM ATP6 CSF1R TBCE ARX SLC25A1 UGP2 EBP CALM2 SIX3 ARSA EBF3 DNASE1L3 B4GAT1 SASS6 KLHL15 TMEM70 PLEKHG2 MTM1 FASTKD2 SLC6A1 CDKN2C OPHN1 DPM3 ATRX FGF12 GRIN2D DIP2B TRNF PRRT2 MYH3 KCNQ3 SLC39A8 ATP13A2 GLE1 SLC35C1 B9D1 CDON ADGRG1 RD3 OPHN1 KCNE1 TSEN2 KMT2A AMACR PDHA1 MAGEL2 TBC1D24 MAP1B SYP CLN5 NPC2 PARS2 JRK HNMT MED12L PDP1 MYT1L ZIC2 TBC1D24 MPLKIP HESX1 SLC22A5 ACOX1 GRM1 ST3GAL3 NONO DAG1 ASXL3 EXT2 HADHB EXT2 CLCN4 SPTBN4 FGFR3 GPAA1 XPNPEP3 NDUFS4 HUWE1 POLG COQ9 NAGA PRKDC GABRD TRAPPC9 ZSWIM6 GRN AIPL1 AP4S1 KCNAB2 ARX SNX14 USF3 POMGNT1 GCK NDNF ACOX1 GABRB3 NOTCH1 HDAC4 ND5 PTCH1 SCN5A FOXRED1 TRNS2 GFAP ADNP AGRN PDHX PEX16 SDHD MEFV TRNL1 CSTB ATM HADH NDUFB11 SNAP25 RAB3GAP2 SHH CTNND2 TREX1 ELP1 TWNK ASXL1 GLI2 IQSEC2 PRICKLE1 SCN2A FOXG1 ARX GATA6 SUOX PRMT7 CCDC115 KISS1R KCNJ13 FUT8 UNC80 TBX1 WAC WWOX MPC1 EIF2S3 PEX14 PPA2 PACS2 FAS AFG3L2 SLC6A19 LAMB1 ERCC2 COG6 ASXL2 ADAMTS3 PIGL CYFIP2 MMADHC SLC45A1 QARS1 DNAJC6 SCN1A YWHAG COG8 MRPL12 EIF2B3 CC2D2A BSCL2 PEX5 SIK1 SOX10 CNKSR2 TMEM237 SEMA4A SNIP1 MMACHC STARD7 SLC12A1 TECPR2 OAT KCNH1 IPW VPS13A NGLY1 PPP2R5D ASPM STUB1 SLC2A1 CACNB4 COG8 TNFRSF11A INTS1 FRG1 TNFRSF11B MCPH1 TRNW BCORL1 PEX5 SLC35A3 TET3 AKT1 ACVR1 ALG9 NSD1 WDR73 PCDH19 TRAF3 FOXP1 GNB5 ND6 WDR45 MYO9A HCN1 TACR3 EIF2S3 KCNQ5 TMEM237 FGFRL1 IL1RAPL1 ND2 POLG IVD IL12B FGFR2 CREBBP CPA6 HTT KCNMA1 NDUFAF2 VARS2 GCSH NDE1 HACE1 NADK2 ND5 AAAS CRX NTNG1 FAM126A KDM3B NODAL SAMD12 ERCC6 ARNT2 FMN2 RFT1 TAT ABCA7 TSEN54 KCNH1 CPT2 ARG1 CNTN2 IQSEC2 UGT1A1 PRRT2 TRAPPC12 HMGCL PMS2 COA8 TOE1 CLN8 STXBP1 TMEM106B MBOAT7 ZEB2 TANC2 MPDU1 GNS RNF13 ARFGEF2 GNAO1 PPP1R15B ABCC8 MSX2 TPK1 SDHB DPM1

Protein Mutations 1

A147T

SNP 5

rs1024611 rs1360780 rs222797 rs2297201 rs2298771