HP:0001250: Seizure

Genes 2968

MBD5 SH2B1 SMARCB1 PDHX TRNK PRICKLE1 ALDH18A1 MAGEL2 GLRA1 B3GLCT TREX1 GRIA2 TRAPPC11 TRNC DOLK POMGNT1 PLK4 CEP164 PHF21A BRAF EFTUD2 CNKSR2 PEX3 ATP6V1A PSAT1 ST3GAL3 APP ARVCF SIX3 PPP2R1A ND1 WDR11 EFHC1 TRPM6 ANTXR1 GABRA1 ARHGEF9 CNTN2 EDN3 RREB1 PTF1A NOS1AP CDK5 CAV3 OCA2 TUBB4A LETM1 FBXO11 ATXN10 KCNH2 DEGS1 MAFB ELMO2 ERMARD AP4B1 PEX11B PEX6 DNM1L SPATA5 FKTN EFTUD2 KCNH1 RPS6KA3 AARS1 LRAT HRAS POLG TSEN54 AIMP2 BUB1B DMD ERCC5 FLRT3 FOXH1 PEX11B TBC1D20 TPK1 ANKRD11 TARS1 PEX1 CEP290 KCNQ2 GLRX5 SPATA5 BRSK2 VPS13B TBC1D24 BRAF ADNP PNPO RAB18 SEC24C CDK8 TUBB2B TYROBP GABBR2 EXT2 PIK3CA HCN1 TBC1D20 TWNK GCH1 PGAP2 MBOAT7 PEX13 PIGA ATP5F1A TSC2 TSC1 WAC GNS FAR1 VPS53 HMGCS2 GRIN2B AKT2 THSD1 ADD3 GPT2 CRB2 CUX1 ATP6V0A2 MDH2 PRMT7 PC ZIC2 THPO SLC12A6 PIGK GRM1 ECE1 STAG1 GJA1 DNAJC6 ADGRG1 KMT2A PIGT VPS13B PHGDH PRKCD SUFU POMT2 PTCH1 KCNE1 SPATA7 TRRAP PLAGL1 AHI1 KMT2E DALRD3 JRK SCN1A GK EEF1A2 SCN8A RELN IRF2BPL VAMP2 RRM2B MTO1 GLUD1 INTS1 SCN1B COL3A1 PHKG2 NDUFAF6 ATP6V1E1 GRN PEX19 ASPM SMC3 PEX26 PPP1R15B PEX12 ACVRL1 AMACR STX11 HNF4A SDHA ADA2 CNOT1 MED25 ACTL6B SNORD115-1 PRDM8 MADD ERCC8 PPP2R5D SOX3 NDUFB11 CPLX1 MAN1B1 KCNB1 EMC1 MKRN3-AS1 ALDOB GRIN2B SEMA6B PSAP FA2H PEX16 ABCA7 FAN1 SLC25A10 COX10 SLC2A1 HMGCL NTRK2 XK TBC1D24 APC2 NGLY1 GLI2 MAF ANK3 F8 PCSK1 MTOR SMG9 SDHA C11ORF95 MVK KIAA0753 ECM1 PNKP SCO2 MKS1 PUF60 CLCN4 CCBE1 ELP1 AGA TAF1 BTD DHX37 PWRN1 WDR11 POU3F3 GDNF PIK3CA PPP3CA ND4 INTS8 PNKP CPT1A CHRNA7 PEX1 KAT6A LAMA2 FLI1 NRAS DLL4 CACNA1E SCN2A MBTPS2 MCPH1 POLG DISP1 EIF2S3 GRN DOCK6 KRAS ERMARD BAP1 SIX3 PEX12 PEX7 SMARCB1 TRNN SLC19A3 DCX L1CAM INSR LHX4 ALX4 ERMARD MSH6 CC2D2A PEX13 NIN BSCL2 CCBE1 GK SCN2A ZIC2 CACNB4 WDFY3 CDC42 JAM2 TRNK LAMA2 GABRA2 KCNQ1 HMBS ACY1 KCNMA1 MED23 CAMTA1 FGF8 DMXL2 PCDH19 SC5D DPM3 EIF2B3 SHH CNTNAP1 PAK1 SYNGAP1 SIK1 CREBBP WWOX HADH OCA2 XPNPEP3 HSPD1 NODAL CEP57 PEX10 PIK3R2 UBE2A GALNT2 SLC9A6 COG2 RAD21 SLC5A6 EZH2 MED25 SMARCA2 ADAT3 ECHS1 DLL1 SLC35A3 RERE FLNA CASK PTPN22 SLC6A8 PTEN FGF12 EPM2A TRNS2 ALDH7A1 CKAP2L CDON TREM2 PPM1B DEAF1 GAL DLD PLA2G6 COG4 EPM2A SIK1 ETHE1 SSR4 TBC1D23 IL12A-AS1 SNORD118 ENG CIT CDKN1B SLC13A5 CYP2R1 FOXG1 HYLS1 ARX UBE3A KCNQ3 NDUFS4 UGP2 TSC2 RANBP2 WAC PPP2R5D SLC2A1 TACO1 ATXN10 FDFT1 HCN1 AASS SLC2A1 CNKSR2 ATP8A2 WDR73 CARS1 SLC18A3 USP9X PEX1 TRNI CUX2 DLL1 NSUN2 TCF20 EXOSC9 TECR GALC PEX14 SLC12A5 ALDH3A2 PSAP GYS2 FGFR3 SORL1 GNB5 DDOST CUL4B TSFM MEIS2 PRODH WFS1 CLPP POMT2 PMM2 BRAF RPGRIP1L ATP5F1A RPIA TUBGCP6 ATP6AP2 CNTNAP2 NDN PEX5 KCNQ2 NTNG1 AIPL1 CTSA SPOP PGM3 CHRNA7 GBA MBD5 MPL SHANK3 KCNMA1 HIBCH PTS ZEB2 LMNB2 XPA TNFRSF11B MAN1B1 NEK1 TRDN BCAP31 WWOX KATNB1 ATRX SYNJ1 STT3A DPAGT1 HCCS GBA SNIP1 ENG SYNGAP1 CCNQ SATB2 PPP1R15B CLIP1 PSMD12 TSEN54 TP53 AGA LAMC2 CPLX1 SLC9A6 IL17F CEP104 PDHX ZNF592 CNTN2 HESX1 CAMKMT MED12 PIGL SDHAF1 MCCC1 CRBN POMK ALG2 TWNK COQ2 ALG9 ATAD3A GLI2 RNU4ATAC NEU1 MGAT2 PRRT2 EIF2B4 TASP1 PMS1 RNASEH2A TBC1D24 HERC1 HCN1 FKTN MLX GAMT IL17RA CALM2 MCTP2 FARS2 FAM126A TK2 MAGEL2 SYP ATN1 NSD1 DPAGT1 FOXRED1 PLA2G6 NDST1 FBLN1 PEX16 PEX10 SOX10 NOS3 IQSEC2 AP4M1 LNPK C9ORF72 HYMAI TMEM216 CISD2 GSS BUB1B GDF2 PRKAG2 MED12 PEX13 CLCN4 GABRG2 DNMT3A NEU1 MFSD2A ATIC SLC6A8 SERPINI1 FOXH1 KCNJ10 CPS1 NDUFA2 YWHAE GRIN1 PLCB1 COX3 GLRB COG8 MECP2 NDUFV2 LSS FBP1 TMTC3 USF3 CLN6 GCK TREX1 CERS1 XPR1 ACVRL1 HADHB H19 OTX2 NDST1 WAC SIK1 NDUFAF3 NDUFAF2 PRRT2 IL17RD CRIPT PCYT1A UNC80 PEX2 PEX10 RNU4ATAC FA2H PSEN1 GLI2 ADARB1 STX16 CLCNKB PIGB IBA57 CCDC141 TRAPPC9 UBTF SUOX RPGRIP1L IQSEC1 DOCK8 AQP2 RPL10 WDR26 HMBS NAXE GABRB2 PIK3CA UBA1 MYO5A ABCC8 DOCK7 INSR PLAGL1 GAS1 SAMD9 PIGH PSAP ERCC5 SLC33A1 USP18 PTCH1 STAT3 HYMAI COQ6 SLC1A4 SCN10A TREX1 RORB AHI1 COLGALT1 KAT6B MEFV STAG2 ISG15 POLR3A TDP1 POMK KDM3B CCDC88A PI4KA ARMC9 RDH12 ACADM IRAK1 TRAK1 FUT8 PEX12 BDNF COL4A2 ASXL2 KIF11 MSL3 HADHA TSEN2 UBE2A HNRNPK TRAPPC11 HIBCH PIGY ENG TGIF1 IDS CACNA1A AVPR2 MTHFD1 PROK2 SETD2 CTSF CCM2 SMARCD1 SOX2 ND5 ATAD3A PQBP1 TELO2 SHROOM4 JAM2 NUP107 HIVEP2 TP53RK GLRA1 TDGF1 ADNP GLI2 NFASC PEX5 TLR3 FRG1 SCN1B PGAP1 TBC1D24 SIX3 ATN1 LAGE3 KCNJ5 TMEM67 CEP41 VLDLR SASS6 TCF4 SYN1 PRRT2 CLCN2 ABCA2 ATRX ZBTB18 RPE65 RBM10 CC2D2A ADGRV1 MAP1B DPM1 NAT8L FGFR2 SCN1A CASR FOXG1 NFKB2 MED12L ALDH18A1 RPGRIP1 PEX11B LIAS SDHD SLC12A1 NAXD WFS1 HAX1 SELENOI ASAH1 GNAS ALG9 TGFBR3 GAMT CYP27B1 TUBGCP6 SPTBN4 ANKRD11 NTNG1 OSTM1 SLC17A5 ATP6V1A MRM2 NODAL PHF6 SLC6A1 IER3IP1 CHD1 SMAD4 IVD KDM6A CLPB TRNS1 KCNA1 NONO NALCN PIGC RAPGEF2 PIGU WDR45 NODAL TCF4 ND6 PEX6 TRNL1 ARHGAP31 NODAL GNE MEN1 CUL4B KCNQ2 DHCR7 TRAPPC4 DHX30 ZNF711 WARS2 NDE1 NECAP1 TBCE POMT1 PHF6 ARID2 PUM1 ASXL1 KCNMA1 FGFR1 ARX MBOAT7 NDUFAF3 SETD5 CILK1 TRNS2 CPA6 ITPA EIF2S3 TRNP RAB3GAP2 PEX3 NBAS GCSH DNM1 AMACR CTBP1 KCNJ6 TBC1D24 SNX14 MEGF10 ARX HUWE1 SCN8A SOX4 RAC1 SYNJ1 NFIA FGFR2 UBE3A BCOR EPB41L1 VARS1 POMT2 PSAP FGF8 PEX13 GAS1 TRIP13 GDI1 SCN10A CPLANE1 AP4S1 CRLF1 SMARCA2 CAMTA1 CEP290 NF1 NUS1 MYT1L CLEC7A CC2D1A GP1BB GLI3 SQSTM1 CYP27A1 PMM2 GABRD PAFAH1B1 CEP41 DLL1 GRIK2 TXNRD2 GABRG2 IKBKG PTEN FUCA1 PAH ARID1B PDHB RXYLT1 CLTC SLC12A5 RUBCN PIGW CCDC88C PSEN1 TLK2 SIK3 NOTCH1 PMS2 P4HTM PRRT2 SEC23B AP4M1 NDUFS8 CDON SLC2A1 TRPV3 DLG4 PPOX CHD1 SUMF1 SLC3A1 GDI1 BRAT1 CC2D2A PDGFRB PSEN1 PLPBP PTCHD1 SDHAF1 CAMK2A CREBBP TBL1XR1 NPAP1 ESCO2 NEDD4L GJA1 BCS1L MSX2 SCN3A TRNF NDUFB11 DOCK6 PLA2G6 KRAS SLC25A12 KNSTRN ARX PHOX2B CDK19 NDUFB8 KMT2E SLC5A7 BCL10 INPP5E CERT1 ATP5F1D PTPN22 USP7 GPC4 ARHGAP31 MAPRE2 NAGA CHMP2B RMND1 PUS3 COQ5 ZIC2 GBA ROGDI EEF1A2 PEX26 TDP2 ZNHIT3 PDCD10 PEX26 AIFM1 SCN11A ZMYND11 DISP1 TUBB2A SLC35A3 SPRY4 ATP1A3 KCNH1 PEX19 CDK13 CTC1 MED25 FOXH1 AP4E1 KCNC3 YWHAG AIP IKBKG PRTN3 SP110 ARID1A NAGA MED13 FRA16E SLC16A1 GP1BB TRNS1 FCGR2B LHX4 INPP5E CASQ2 GMPPA ABCD1 ATP1A2 AP4S1 KATNIP HCN1 MOCS1 YWHAG DSTYK NADK2 TSC1 PSAP TREX1 GRIA4 ALDOB PROP1 ZNF81 SMARCC2 ND5 IFIH1 KIF1A RPS6KA3 PHACTR1 NDUFS7 PLK4 FGFRL1 PODXL RNASET2 GCDH UGT1A1 AP3D1 SALL4 WDR37 NEDD4L CDK10 GLI3 PEX3 DYNC1H1 TRNF NPRL2 ALDH7A1 WDR62 CAMK2A FADD OTC C4A ACO2 TRNQ TOMM40 DIAPH1 KIAA0586 RAI1 MPDU1 SH2B1 KPTN MECP2 MECP2 LAMC3 SNRPN KDM6B SON FIG4 TRNS1 HNMT PDCD10 TBC1D24 GRIN2B PEX1 SLC25A15 DMXL2 HDAC8 LGI4 EPRS1 GRIN2D MFF KCNQ3 ASPA TRAPPC11 PRMT7 KCNQ3 ERCC2 JRK PRF1 FKTN MAP1B TBK1 SCN4B GBA TREM2 SMARCA4 GM2A MSH2 DHCR7 MMACHC KDM5C PIGG SDHB CAMK2B GMPPB SLC35A1 AMER1 GBA SPP1 KIF7 MYH3 KCNJ13 TBCD FGFR3 FOXP3 KIF5A TRNK PPT1 PLEKHG2 AKT1 TRNF THOC2 PEX5 NUS1 SOX5 BCKDHB SARS1 KANSL1 CEP120 PURA HMGCL SATB2 ACP5 TRAPPC12 DNM1 KAT8 TUSC3 ZFP57 CARS2 ALG13 PLAA PTH PCNT OFD1 TET3 KLHL7 CLTC CDON TYROBP ACTG1 PIGA NNT OTUD6B VCP EARS2 WDR26 CRX KCNB1 KDM6A DBT HS6ST2 SLC45A1 DEAF1 STRADA DPM2 PSMD12 STXBP1 SLC35C1 CLN5 ASXL3 PWAR1 SLC1A4 TRIP12 NUP133 TCF4 AGRN ALAD TGDS ERCC4 TMX2 SCN8A ASNS KCNMA1 FAM111A GLUD1 OCLN PEX16 NIPBL MTM1 SMAD4 LIPT1 LAMB1 TRNL1 FGFR1 HECW2 SETD2 PRODH TBR1 CDH15 LRP2 PHF21A ZIC2 B3GALNT2 ARSA NNT MANBA LINGO1 MID2 FLVCR1 NUBPL FA2H CDKN2C PIGN NDUFA10 MED12 ND2 SLC13A5 NHLRC1 UFM1 ADAT3 PSAP PPA2 CPOX APC2 TRAF7 KIF7 ADPRS PRNP PDE10A NSMF ARID1A CRLF1 TBX1 NSD1 ARG1 KCNN3 AIFM1 SMC1A PIEZO2 LMNB2 CREBBP FGFR3 TMEM237 CDH23 NDUFS7 PDGFB EML1 PDE6D ATP6V1A TMEM231 TBX1 ERCC6 MTFMT SLC19A3 EPCAM MECP2 PEX14 PGAP3 IL10 TULP1 GABRB3 NDUFS8 DEPDC5 GCK SCN9A SDHD EHMT1 ATP1A2 STRADA TRNF WASF1 NDUFAF5 NDUFB11 FOXP1 FUCA1 SDHB RNASEH2C NSD2 ROGDI FH NLGN3 ARFGEF2 NOTCH3 SYN1 PEX5 XPR1 PEX19 TUBG1 CRADD PDHA1 SMARCE1 CRBN ATP6V1A MPDZ NADK2 ARV1 POMGNT1 PERP COL1A2 FAM149B1 TRAPPC9 ND6 SIK1 ASL HESX1 SLC25A19 LGI1 AVPR2 TGIF1 NEUROD2 TRAF3IP2 ARFGEF2 TBX1 IDS KPTN ZNF41 KISS1R SSR4 MYH14 PIGP HNRNPU DDX3X TRNS1 STEEP1 ALG2 TRIM71 GABBR2 ASXL3 CIC TRAPPC6B DNMT3A CTSA GUF1 CPT2 EIF2B2 ATAD1 SC5D KCNJ11 SCN1A SUCLA2 IL23R COX2 COQ2 KCNC1 SRPX2 OFD1 TRAK1 POLG TSC2 RAI1 CHAMP1 PEX12 GAD1 HADH SCN8A TUBA8 CHD2 FGF8 GRIK2 SNRPN PROKR2 NDP STT3B CAMK2A TCF4 FADD TANC2 COL3A1 ATP1A1 CYFIP2 VARS2 TIMMDC1 EIF3F GCK POGZ TCTN3 KDM5C GLI3 SDHD SLC19A3 MANBA TAT SLC25A13 TDGF1 SMARCE1 POU3F4 SEMA3A HACE1 PARS2 LRPPRC IREB2 LIPT2 TERT ACOX1 MVK PPP3CA CACNA1D B4GAT1 PEX26 WDR45 GNB1 LAGE3 MOCS2 EHMT1 NF2 PURA NF2 DYRK1A GABRB3 TUBA8 HEXA NDUFS1 FAS SAMHD1 TBC1D24 PTEN TGIF1 CLP1 ARX MLC1 TRNK PCLO GABRD ABCC8 SCN2A FMR1 TPRKB TWNK ELOVL4 HGSNAT OAT TBC1D24 GNAQ MYO9A CYFIP2 KCNA2 LMAN2L SRD5A3 FRMPD4 IFIH1 FTO KCNJ11 CLPB COL13A1 GNAS TWNK OSGEP ATP6V1B2 SETD5 POMGNT1 CCR1 CRPPA HK1 UQCC2 COX2 EIF2B1 OFD1 GPR161 MED12L DYRK1A POMK PEX2 SCN8A FAS UPF3B CDH2 KIRREL3 UPF3B DUSP6 DHDDS OTUD6B POMC TRNT1 EFHC1 TGFB1 NDUFA9 HCFC1 CLN6 NPHP1 ANKH TECPR2 GLS GPHN NRAS ERAP1 ERCC6 ZDHHC9 FARSB RAB27A SLC1A2 PACS1 FCSK SZT2 RALGAPA1 ST3GAL3 ANK1 NIN JAK2 GLI3 PHOX2B FTSJ1 LYST GBA SLC25A22 LETM1 STX1B COX4I1 PGAP1 CLN8 NEUROD2 HERC2 IGF2 MBTPS2 HPRT1 ATIC GNAQ GNAS KLRC4 DNASE1 PREPL ACADM TRAPPC2L FAR1 PROKR2 FMN2 PIGN IQSEC2 TBL1XR1 NLGN4X IDH2 MVK DLK1 GUCY2D GM2A NDUFAF8 GNAO1 BCORL1 NTNG2 GTF2E2 KLHL15 SYNJ1 CSNK2B SGSH KCNT1 RNU12 TRAPPC4 VPS11 CACNA1B MED12 CDKN1A ALG1 TXN2 CRADD KIFBP TANGO2 GRIA3 GRIN1 MIPEP GP1BA PEX1 GABRG2 ARHGEF6 COX3 COX7B ERCC3 DYNC1I2 ACOX1 KCNAB2 CTNS ANGPTL6 TRIO SPR PAH OSTM1 DISP1 ANKLE2 EZR GABRB1 NTRK2 CDKL5 ACSF3 KMT2D SPG11 SLC6A5 NOTCH2NLC EEF1A2 PET100 KCNA1 CLTC PEX3 FEZF1 IARS1 ERCC6 MAGEL2 MC1R SLC2A1 TRNK NDUFAF4 C12ORF57 IQSEC2 AMT TECPR2 SLC9A7 KRAS PIGY KIF2A RAB39B ATP2A2 FRMPD4 D2HGDH MGP TRDN SPINK5 NHLRC2 NGLY1 GNAS PGAP2 LARP7 STARD7 STAG1 RYR2 CCND2 UCP2 RPL10 CEP85L CTNNB1 ANO10 WDR45 PACS1 NELFA NAA10 NTRK2 FDXR NLRP3 KCNJ11 STXBP1 PAX2 ND1 FXYD2 ATP1A3 PIK3CD ARSA ASS1 USP9X POLG PSAP AIMP1 HLA-DPA1 GUCY1A1 SETBP1 ATP10A MSX2 SVBP ADAM22 CPS1 ATP6 DCX FKRP PURA GPC1 CYP27A1 PROKR2 EBP ARHGDIA SIM1 L2HGDH SCN1A NACC1 ROBO3 SDHA NF1 PHGDH ACTL6B RAC3 TREX1 ATP6V0A2 MYO5A MORC2 STT3B POLG2 MEF2C SCN3A TRAF3 SLC19A2 ATN1 MTHFR HLCS CD96 SATB2 KIF5C ERCC8 HLA-DPB1 DLD PEX2 VPS11 CFHR1 FOXH1 CLCN4 GABRA5 SURF1 MECP2 KMT2C SLC25A20 SERAC1 HRAS AKT1 RNR1 TSC1 MEN1 TRMT10A NIPBL ACOX1 ARX SLC1A2 MBD5 ATP6 PTRH2 KMT2A CCDC115 GAS1 PROP1 METTL23 SLC13A5 ACTB TRNW B4GAT1 FBP1 CTLA4 TUBB3 PDE4D MRAP ADAMTS3 SOX10 ERCC3 DNM1 CBS NCAPD3 DAG1 KDM5B COG8 CDH23 FGFR2 ISCA1 CDON CLN3 FKTN DPM1 TPP1 KCNJ1 FGFR1 ASPA PHACTR1 VPS51 DISP1 ATP6AP2 LSS MFSD8 TMEM70 NDUFAF6 SPTAN1 STAT2 GABRA2 ARL6IP6 CHD2 CYP27B1 GALC ERCC1 LIG4 FKTN NF1 PDGFB GYS1 FAS NAGS PAK3 RTTN TCIRG1 KCNA2 EEF1A2 CDH15 DPYS TDGF1 KDM5B PSEN2 TMEM216 CACNG2 NFIX FTSJ1 RFT1 COX15 PCDH12 SLC35A2 CNPY3 FGF8 CDKL5 POMT2 COX1 STXBP1 ABCC8 CTLA4 FLI1 MAPK8IP3 MMADHC DPYD GPHN PRRT2 ARSA ERCC2 WDR4 AP4B1 EXT2 ROBO1 GTPBP2 KMT2A MTRR CYB5R3 STXBP1 IPW ASCL1 GATA6 DIP2B ARNT2 HTRA2 AP2M1 CHD8 CNPY3 GTPBP3 AUH FGF8 SNRPN SLC45A1 STAG2 LMX1B KCNA2 ADSL HNF1A L1CAM LONP1 ZC3H14 DCPS SAMD12 KIF1A HTT SLC25A15 KCNJ10 CXCR4 ERCC8 UNC80 PGAP3 ACADSB MEFV COQ9 GJC2 WDR81 KCNQ2 SUCLA2 RNASEH2B GABRG2 GRIN2B SLC44A1 KCNA1 NOTCH3 TICAM1 HERC2 CYTB MAF TRPM3 CTNNA2 ALG3 ABCC8 TUBGCP4 CASK NPC1 FTL POMC EFHC1 FAM111A NDUFS2 DBH ALG6 NDUFS1 UBA5 MMAA AP2M1 CALM3 PEX6 ZFYVE26 GUF1 FARS2 ATP7A HTT ZIC2 RNF213 NPC2 PRRT2 PIGV ALMS1 HTT FGF8 LINS1 KDM6A GPC3 DHDDS FRRS1L PEX14 DYNC1H1 CYP26C1 FKRP MAGEL2 SYNGAP1 PQBP1 COG5 ETHE1 DNASE1L3 RASGRP1 GRM1 CHD7 CCDC141 NSDHL PROC KLLN IARS1 OTX2 ZNHIT3 STX1B DHFR GAS1 FBXW11 SCN2A ACTA2 PTCH1 ATP6AP2 STUB1 EPG5 GLI2 LBR NDE1 HIC1 ARID1B ZBTB18 BRAF BCOR FLNA IL12A CPA6 MMUT CLDN16 IQSEC2 POLG2 IL17RC PRRT2 GNAQ SCYL2 ALG11 SMARCA4 KIAA1109 SET CLP1 PIGM XPC PMPCB MKRN3 CD96 L1CAM PNPLA8 ATAD3A TXN2 NDP ECM1 EIF2B5 ADGRG1 OTX2 FMR1 PLP1 VAMP1 PAH RTL1 IQCB1 CAMK2B MYO5A TWNK PROKR2 PLPBP POLE NECAP1 FGFR3 TBCE SCARB2 ASH1L UPB1 GABRA1 PIGL CACNA1A SLC2A1 MDH1 PEX10 WDR73 SLC46A1 DHPS JMJD1C RSRC1 KCTD7 CPT2 GLI2 BUB1 ERLIN2 TMEM106B GMPPB CILK1 SHROOM4 NRXN1 KCNT2 IL12B OCLN SLC2A1 GEMIN4 UFC1 ALG3 TMEM237 TNIK TBX1 PIGT STAMBP TMLHE KLF13 FKRP KAT6B FLNA HCCS NOTCH1 FOXA2 MPLKIP STXBP1 KCNK4 CDH11 GLDC TIMM50 PLAA MADD GCDH ADA2 PEPD MYT1L BMP4 GTPBP3 CTSD KRAS CCM2 TRMT10A PTCH1 DARS2 EP300 GNAO1 CDC42 CDKL5 TANGO2 SNX14 AKAP9 PIGO STAT4 COL4A1 RHOBTB2 BPTF KCTD7 SIN3A GNB1 SLC6A19 TBCE SMARCB1 SNRPN SOX10 KCNMA1 BRAT1 NSUN2 ARX ZMIZ1 ANK2 WDR4 RNF113A HNRNPK MBTPS2 PRSS12 FASLG NDE1 ALDH4A1 SLC39A8 PNPO TAF1 ATRX DOCK7 RAB39B DCC SMARCC2 DEAF1 NSDHL SCN1A PLA2G6 TUBB3 PSAT1 ADGRG1 PSMD12 ATP6AP1 PCDH19 MLH1 HEPACAM POGZ GABRA1 IMPDH1 PIK3R2 IQSEC2 BPTF LAS1L PPP2CA RARS2 LONP1 GRIN2D ARCN1 PIGV HESX1 BCOR POLG CLCN2 ARSA SLC12A3 ARX GYS2 NEU1 GABRA1 MACF1 TGIF1 SETBP1 ATP1A2 CFH UBE3A ERLIN2 CPLANE1 PEX6 ZMIZ1 HDAC4 TSC1 SCN2A PIGQ TP53 MPDU1 ATP1A3 AKT2 GOT2 CHRNA2 ATR MYO1H SETD1B RPL10 CACNA1A CNTNAP2 CLIC2 GABRD SEMA4A HTT GABRB3 SCN2A EHMT1 TRIM8 RAB11B FIG4 LAMB1 MKS1 DOCK3 TRNS2 SMS SETBP1 SURF1 TFAP2A MC2R NDUFA1 UFD1 GDF6 ARL13B ASAH1 DHX16 HNRNPH2 CENPE GLS DNAJC6 GBA MECP2 SHANK3 GCM2 ATRX FLVCR2 SNTA1 CACNA1A LAMB3 SMS ERCC6 ACTL6B KMT5B KANSL1 GRIN2A PTCH1 EIF2AK3 SCN1A NR2F1 POMT1 ARV1 RAB18 SLC1A3 PLCB1 DNAJC19 TDGF1 ATP13A2 SEPSECS TRAPPC12 PEX5 FGFR1 CUX2 CHD2 RAI1 NDUFS2 BCKDHA MYRF CDKL5 PHKA2 HTRA1 STXBP1 CPT1A ZEB2 PIGO SMC1A PIBF1 PCCB SCN1A SPTAN1 KCNQ2 LARS2 SIX3 NALCN OCRL GPHN CTU2 METTL23 PEX16 HSD17B10 SMC3 PDX1 PEX19 MICAL1 IQSEC1 DIS3L2 TLR3 PRNP RAB11A DLL1 RBPJ HIVEP2 SHH CPT2 DPH1 TMEM94 PIGG TBCK ADAR MTRR HDAC8 MLH3 ITGB6 TSEN15 COL4A1 SRPX2 STAG2 GFM1 COL18A1 ALG13 BUB3 ALDH5A1 AQP2 STT3A KIF1A NSD1 BOLA3 C12ORF4 GABRD TRIP13 MEG3 TREM2 KMT2C DDX3X ADGRV1 NARS2 BCR PIGS RSRC1 RNF125 PSPH SCN3A GLB1 AHDC1 ABCC8 CNNM2 SNAP25 CENPJ DLL1 LAS1L EXTL3 CHRNB2 DHDDS COMT EXOSC3 SLC25A42 MYORG KAT6A AAAS ARX EMG1 CDK19 NECTIN1 PDSS2 RELN RAB27A L2HGDH LARGE1 FCGR2A RPS6KA3 YEATS2 IRF3 AUTS2 CYTB TMEM67 ABCD1 ADAMTSL2 FOLR1 IL1RAPL1 GRIA3 MTHFS OCA2 LHX1 TGIF1 PIGN PROK2 TRNH PAFAH1B1 INPP5K GNE APP PCYT2 ALG13 ACADS ATP6V0A2 NSUN2 AGTR2 EPG5 ERCC6 PRPS1 DDB2 CASK CNNM2 KIF11 SHH ARID1B CACNA1C ARL3 GABRG2 MTOR HACE1 OSGEP LAMA3 POMGNT1 SHH PRKDC MED13 RORA ACSF3 ARX SLC1A3 GJC2 SAMD12 AKT1 LMBRD1 TTR AARS1 PDSS2 NDUFA2 NDUFAF2 KCNJ11 CTNNB1 CEP120 AIMP1 PTEN CPT2 CPLX1 NDN AP3B2 RAB39B DLL1 RAB39B PRDX1 KCNQ5 TGFBR2 PRPS1 FKRP MTR MECP2 SPAST GPAA1 GRIN2A SLC13A5 IFT140 KCNE1 HIRA ACTG1 SVBP B3GALNT2 ARMC9 HOXA1 BAP1 STXBP1 MEN1 COX1 CSPP1 HSD17B4 SIX3 FOXG1 EXTL3 MCCC2 THOC2 MEF2C PET100 MOGS ACTB SOX11 MSX2 GNB5 EGF USP9X ND4 CKAP2L GABRG2 POLG PTS SCN9A MLYCD CHKB SON HESX1 ACTL6B RANBP2 NRAS GABRB2 TRNL1 KCNQ5 PCK1 NOTCH2NLC AKT3 HPDL GFAP NRAS DNAJC5 PEX2 MRPS22 FRRS1L OPHN1 PCCA QARS1 TDGF1 NTRK2 HNRNPU PACS2 GLA HSD17B10 TRNW ST3GAL3 NF1 NPRL3 RARS1 SHH RUBCN ADSL CASK TRNV TANC2 NUS1 SYNGAP1 NEXMIF DENND5A NFIX TRNL1 SLC12A3 GALC RNF13 OCRL SLC17A5 TOE1 FGFR2 SLC25A4 NAGA MGP SCN5A ARG1 GBA TMTC3 TSPAN7 SLC35C1 ARX TSEN54 SLC35A2 VPS13A AHSG NDUFA12 ADK GRIN2A SLC25A20 POU1F1 TRNH AKT3 GABRA5 AMPD2 SNRPN ADRA2B SLC22A5 FGF17 SCN2A DEAF1 CNKSR2 USP45 FGFR1 STAR TRMT1 HUWE1 PDP1 DNM1L UBE3A AFG3L2 EGF MAST1 GNAS TAOK1 GATA6 SIN3A POMGNT2 JAM3 GRIN2A ND1 CBS MARCHF6 KMT2D DLG3 TBCK WDR73 SUFU NF2 MICOS13 ACAT1 CASP10 KIF4A PAK3 ZSWIM6 GATA3 APP CNOT1 DALRD3 SPR ZEB2 TRIO CHN1 QDPR GLE1 PIK3R2 EBP PGK1 KCNH1 MED12 SLC2A3 PLP1 RAC1 FGFR3 KIF15 TRNQ SLC20A2 MECP2 SLC25A22 ND3 CACNA1H CLCF1 PDHA1 TNFRSF11A TMEM231 GLA FBXL4 ASXL1 LARS1 GMPPB KCNT1 MED17 NSD2 HS6ST1 DPF2 HADH PIK3CA SCN1B AP3B2 DDX6 APP RELA SRPX2 PTCH1 CA8 GPAA1 NHLRC1 SYP ZSWIM6 NDUFV1 WASHC4 TRAF7 GJC2 CDON ST3GAL5 RNASEH2A CIC ODC1 FGFR1 POLR3A GPT2 TWIST1 NDUFA13 GABBR2 BCORL1 PIGW NDUFA4 ACSL4 FOXH1 COG7 SCN2A NEK9 STS COG4 ABCC8 MID2 PAFAH1B1 MPC1 TBCD PSAP ABAT ALDH5A1 COX8A GP9 PTEN PYCR2 GATAD2B NACC1 TBCE NUP214 ASH1L DISP1 TCTN2 TACR3 TBCE GLYCTK TSC2 PEX14 KANSL1 NOVA2 TRNP EIF2AK2 MAPK1 IFNG NDUFS3 HNF1B FASTKD2 NDN ND5 TCF20 COG2 IDS PANK2 MC2R FAM149B1 DPM2 OPHN1 NAGS OCA2 FLCN ALG11 NANS DYRK1A RPS20 ARNT2 HLCS LYST NDUFA11 SMO NONO SNRPN CSTB SCN9A AFG3L2 CASQ2 SLC25A1 ZNF142 MAN1B1 IL1RAPL1 SLC39A8 ATM PTRH2 POLG ZNF423 FMN2 UGDH FAM111A TUBB2B PSPH CTH PIGL FGFR1 RD3 NDUFB8 CACNA1C SCN9A NDUFS6 FBXO31 ABCA5 ACY1 B9D2 COQ4 VPS13A ARHGEF9 BMP2 ZBTB20 CSNK2B TBX19 HERC1 DNM1L METTL5 POMT1 GRIN1 TUBB2B NEXMIF CSNK2A1 MTOR SARS1 GATA4 TRAPPC9 SNORD116-1 TMEM165 CAD MN1 POLR2A NDUFAF5 SGPL1 GRIN1 RRM2B KRIT1 CDKL5 SETD1A POLA1 SMARCB1 TRNT PPP2R1A SURF1 CALM1 SIX3 TWNK UNC93B1 TP53 SMPD1 PRUNE1 BSCL2 B3GALNT2 PSMB8 STAG2 CRKL LMAN2L CACNA1D ATM CDKN2B KRIT1 SZT2 CHRNA4 CLN8 SLC2A1 KCNQ3 COL18A1 RPS6KA3 MRPL12 MMACHC GOSR2 TCTN1 CDON SRPX2 NMNAT1 KCNJ11 NDUFV1 SMC1A FOXRED1 AVPR2 ARF1 OPA1 MARCHF6 CACNA1B COG6 TRNQ BCL11B GABRB3 PRDM16 EDC3 UBE3A ADGRG1 ACTL6A HEPACAM TK2 ZIC2 VLDLR UBE3A PRRT2 ERCC2 PTPN23 TRIT1 LARGE1 EXT2 HADHA ALX4 USP27X UBTF GPSM2 TUBA1A NUP133 KCNJ6 RERE MAPT CEP290 ZC4H2 SKI TMEM237 ASPA LAMA2 PIK3CA LARGE1 DCC PRDM8 EOGT ANKRD11 ALPL TRNW SMC1A POMT2 KCNE2 SLC46A1 MTFMT RTTN CHAT SDHC SEC31A KRAS TLR4 TBCE COX7B SLC25A1 RAB3GAP1 PTCH1 KCNH1 TBX19 B3GALT6 YEATS2 MYT1L FAM50A GLI2 PDHA1 GAS1 PCDH19 CSF1R TBP COQ8A NIPA1 SLC6A1 AP4E1 ANOS1 ANK3 SMARCE1 LCA5 SET ATP7A GLUL KCNQ1 TMEM106B PEX6 SLC6A19 MAGEL2 WARS2 EBF3 DGUOK STAT4 FITM2 WWOX GTF2H5 TRNV FAT4 LRP2 CYB5A TSEN54 ALDH3A2 PIGC ALG1 MOGS MAPK10 PIGP UBA5 RELN COQ8A UBAC2 MAP2K1 SCN1B NIPA1 SCN1B CARS2 PARS2 TMEM138 PHOX2B BMPR1A MMADHC RBM8A ARF1 ALKBH8 CFHR3 MTHFR NDN TMEM70 SLC12A6 POMT1 TDP2 BCKDK CACNB4 DHCR24 CREBBP SMPD4 ALPL SNAP29 NKX6-2 RECQL4 AUH NAGLU TRNL1 RET TRMT1 TDP1 PEX5 NRROS SNRPN AKT1 ACVR1 RERE TP53RK ARX ERLIN2 TBK1 ND5 GNAO1 SYT2 NDNF HSD17B10 PPP3CA B9D1 WHCR DLG3 GFM2 HPD NAA10 STXBP1 SARDH ND6 IVD HLA-B FGFR3 EP300 MAGEL2 GMPPB NDUFS4 MFF HCFC1 INPP5E GMPPB RELN SETBP1 TRAPPC11 CRB1 MECP2 NODAL GRM7 ATAD1 VDR ERCC4 PYCR2 RFT1 HDAC8 USP7 TREM2 ATP6V1B2 CTNND2 FLII CLIC2 CPT2 ATP6 ABCC9 DHCR24 COA8 CLTCL1 TOE1 TMEM67 AP1S2 RLIM NEU1 ASAH1 PIGQ CLN8 INS HLA-B FGF12 BTD SDHA

Protein Mutations 1

A147T

SNP 5

rs1024611 rs1360780 rs222797 rs2297201 rs2298771

HP:0100022: Abnormality of movement

Genes 3247

MERTK MBD5 TRNK PRICKLE1 ALDH18A1 GLRA1 TIMM8A SCN9A GRID2 GYG1 SCYL1 TREX1 RPE65 CNKSR2 NTN1 PEX3 WNT3A NTRK1 ST3GAL3 ND1 NR4A2 WDR11 GABRA1 TOPORS CDK5 RRM2B SPG11 MME LETM1 GNA11 DDHD2 ATXN8OS PEX11B TERT RPS6KA3 GJB6 KCND3 HRAS TSEN54 LRRK2 AIMP2 ERCC5 FLRT3 GBA NEB OPA3 SPATA5 BRIP1 ABCC8 TBC1D24 PNKP CRYAB PNPO CDK8 TYROBP PRKAR1B TULP1 NUP62 TWNK MBOAT7 PIGA PEX10 GSX2 ATP7A MYH2 GRIN2B GPT2 DLST CUX1 MDH2 TPM2 DYSF ABCB7 SLC33A1 ATCAY GRM1 TRIO RYR1 DNAJC6 ADGRG1 MAPT KMT2A POMT2 TPM2 PRRT2 AHI1 DALRD3 JRK SCN8A CAV1 VAMP2 ARL3 MYF6 SCN1B NDUFAF6 GRN ADAR PPP1R15B PEX12 HNF4A ADA2 ACTL6B THRA PRDM8 ERCC8 FANCL CPLX1 EMC1 LYST SEMA6B PSAP SLC18A2 ABCA7 COX10 SLC2A1 VPS33A HMGCL LDB3 XK TBC1D24 NGLY1 GLI2 ATXN1 THAP1 SMG9 SDHA PNKP MKS1 NKX2-1 TAF2 ATXN3 COL12A1 TRPC3 ND4 KAT6A LAMA2 CCDC88C SCN4A DISP1 DHDDS BAP1 MCM3AP RPE65 C19ORF12 SLC19A3 CFL2 MORC2 TSPYL1 MAG SLC39A4 SCN2A HNRNPA2B1 ZIC2 CACNB4 WDFY3 MPZ JAM2 TRNK GABRA2 SNX10 HMBS FGF8 SHH CNTNAP1 GRM1 SIK1 HACD1 CREBBP NODAL ATXN1 ERLIN2 ZFYVE27 SLC5A6 SCYL1 MED25 VCP TBR1 USH2A TNNT1 FGF12 SQSTM1 EPM2A TRNS2 TREM2 DLD DNM2 SLC6A9 TBC1D23 SNORD118 CIT UBE3A PPP2R5D SLC2A1 EYS ATXN10 MME SYNE2 SLC2A1 CARS1 VAPB USP9X TRNI TECR CRYAB PSAP CUL4B TRNE TSFM PRODH MYBPC1 TRNL1 MMP13 PLD3 PRCD GBA2 PEX5 NTNG1 SPOP GBA MBD5 C12ORF4 SHANK3 COMP SGCG PNP ACTA1 TSHR PTS WWOX KATNB1 FMR1 PARK7 CYTB GBA SNIP1 MTPAP SATB2 PPP1R15B CLIP1 TSEN54 CPLX1 SLC9A6 LMNA DMD PIGL SDHAF1 MCCC1 POMK ATAD3A GLI2 RFC1 NEU1 EIF2B4 COL6A3 UBA1 RAB3GAP2 TIMM50 PMS1 RNASEH2A FKTN GAMT FHL1 FARS2 TK2 SYP ATN1 DPAGT1 TPM3 MYOT NDUFA9 SYNE1 FBLN1 COL12A1 PEX10 TRIP4 IQSEC2 KLC2 SDHB C9ORF72 GSS PNPLA6 TRNS1 PEX13 KCTD17 STAC3 SERPINI1 FOXH1 NDUFA2 COX3 BEAN1 GLRB COG8 LRRK2 GNPTAB HADHB NDST1 TTBK2 HSPB1 NDUFAF2 PRRT2 IL17RD FANCB B4GALNT1 SPTBN2 UNC80 KY FA2H PIGB REEP1 SURF1 CCDC141 UBTF RPGRIP1L RPL10 WDR26 TIA1 UBA1 RTN2 DMPK ERCC5 PRICKLE1 PSAP COL9A2 VCP POLR3A TDP1 CCDC88A EED FHL1 REEP1 SBF2 MDH2 FUS SMN1 SLC34A3 CACNA1A ATP6 TTN PROK2 SETD2 VPS13D ATP8A2 TELO2 SLC52A3 AFG3L2 PMP22 CEP152 GLRA1 PDK3 NFASC C9ORF72 SCN1B TBC1D24 TRNN CHCHD2 RGR SNCAIP OXR1 TMEM67 CEP41 VLDLR COMP PMP22 CP PRRT2 CLCN2 DDRGK1 AP1S2 SLC39A14 RBM10 MAP1B DPM1 NAT8L SCN1A HSPG2 FOXG1 FXR1 PINK1 VHL LIAS NAXD SELENOI GNAS NRL AFG3L2 UQCRQ ADSS1 DMXL2 SPTBN4 NTNG1 OSTM1 FOXP1 ATP6V1A JPH3 NODAL OPA1 SLC6A1 IER3IP1 TRPV4 CDK5RAP2 TRNS1 NALCN ATXN8OS PCNA SOD1 NODAL COX20 UCHL1 AIFM1 CUL4B ZNF711 ANO5 PUM1 ARX NDUFAF3 RLIM SLITRK1 ZNF408 ITPA EIF2S3 TRNP DNM1 SPTBN2 KCNJ6 MFN2 ARX CSTB ACTA1 TRIM32 UBE3A HINT1 SYNE1 EPB41L1 HSPD1 POMT2 FGF8 COX3 CPLANE1 SCN4A AP4S1 CHRND MYT1L FKRP SGCD CC2D1A SQSTM1 PMM2 CEP41 DLL1 IGHMBP2 MUSK MYL1 CLTC SLC12A5 PRDM5 TLK2 TTI2 AP4M1 BIN1 TAF1 ADAR PPOX CHD1 BRAT1 PSEN1 PTCHD1 SDHAF1 RETREG1 COL2A1 CREBBP HSPB8 GJA1 SCN3A TRNF PRKCG KNSTRN ARX CDK19 KMT2E SLC5A7 INPP5E CERT1 MMP13 SCN4A CHMP2B RMND1 PIEZO2 COQ5 ZIC2 MFN2 GUCY2D MATR3 PEX26 ENPP1 MED25 PNPT1 FOXH1 YWHAG IKBKG ADH1C NAGA MED13 SIGMAR1 INPP5E AP4S1 KATNIP HCN1 MOCS1 TTC8 NADK2 SMN1 PSAP TREX1 GRIA4 ATXN2 ND5 KIF1A IDH2 NDUFS7 PODXL FHL1 GCDH VAPB ARHGEF2 LMNA PEX3 DYNC1H1 COL12A1 LMOD3 TRPV4 WDR62 KIF1A TRNQ TOMM40 KIAA0586 ZMPSTE24 RAI1 VPS37A KPTN MECP2 SLC25A19 VCP ACBD5 SLC25A15 DMXL2 SPATA7 EPRS1 KCNQ3 ASPA TRAPPC11 ARHGEF18 TREM2 SUMF1 ADCY5 MPZ KDM5C BVES CAMK2B GBA CACNA1A TBCD VPS13C CHST3 PURA SATB2 GLRX5 CARS2 ERCC1 PRPF8 CHCHD10 GMPPB RMRP DNAJB2 PIGA PDE8B TMEM240 OTUD6B VCP EARS2 ECHS1 TWNK SLC45A1 DPM2 SLC1A4 TCF4 TMX2 ASNS KCNMA1 OCLN POLG ACTB ACTA1 MTM1 TRNL1 VPS35 FGFR1 HECW2 CHMP2B FKRP MARS2 B3GALNT2 DDHD2 SQSTM1 CAPN3 FLVCR1 NUBPL FA2H CPT1C RAD51 PIGN NDUFA10 NHLRC1 UFM1 PSAP WNT1 ADPRS PLEKHG5 PRNP NSMF SYT1 NSD1 REEP6 BSCL2 CREBBP PDE6D MTFMT SLC19A3 VCP EPCAM PEX14 IL10 PDGFRB GABRB3 NDUFS8 MAPT SDHD DCAF8 PNPLA2 RNASEH1 RNASEH2C SAMD9L COL6A3 GJB1 ND4 NOTCH3 FLNC PEX5 XPR1 PDHA1 SMARCE1 PTCHD1 CRBN MPV17 POMGNT1 HTRA2 SPAST SIK1 TRPV4 IMPG2 ATP13A2 PNPLA6 DNAL4 NEUROD2 KIF1A FHL1 TMEM107 KISS1R MYH14 DDX3X NDRG1 STEEP1 STIL SLC33A1 ALG2 GABBR2 TUB SAR1B SC5D ALDH18A1 SUCLA2 GBA ERBB4 IL23R FBXW11 TRAK1 RAI1 CHAMP1 TUBA8 ALDH18A1 FGF8 TCF4 TANC2 CYFIP2 MIEF2 WDR62 KDM5C PDE6G SDHD TIA1 SLC19A3 HIKESHI TAT SLC25A13 TDGF1 MATN3 DYSF RAB7A HACE1 PARS2 LRPPRC IREB2 LIPT2 TERT DSTYK KCTD17 PPP3CA CACNA1D CASR WDR45 MOCS2 PNPLA2 EHMT1 NF2 DYRK1A GABRB3 TUBA8 NDUFS1 TOP3A SAMHD1 GDAP1 TBC1D24 TGIF1 DPAGT1 TRNK CCDC28B GTF2I CACNA1A TWNK GNAQ FRMPD4 IFIH1 RYR1 GNAS POMGNT1 CRPPA HK1 EIF2B1 AIP COL6A3 DYRK1A KIF1C POMK FAS CDH2 MBTPS1 KIRREL3 EFHC1 TECPR2 CHD3 GPHN COL6A3 ERAP1 SLC1A2 SZT2 ST3GAL3 DYNC1H1 LYST GBA TKT STX1B COX4I1 PGK1 TBX4 NEB NEUROD2 HPRT1 KLRC4 SCAPER TRAPPC2L PRPF31 NLGN4X RETREG1 NKX2-1 GM2A SFXN4 THAP1 GNAO1 BCORL1 NTNG2 GTF2E2 SYNJ1 PEX2 KCNT1 TRAPPC4 CACNA1B MED12 CRPPA GRIA3 POMT1 GABRG2 ARHGEF6 ERCC3 DYNC1I2 ACOX1 HSPD1 KCNAB2 CENPJ SETX COL6A1 TRIO COL2A1 POMT2 CHCHD10 NAA10 EZR ACSF3 EEF1A2 FBXO38 FEZF1 WASHC5 HSPG2 ACTB SLC2A1 SBF1 NDUFAF4 AMT TECPR2 GTF2IRD1 SLC9A7 KRAS FRMPD4 CDK6 POLR1C PRKRA NGLY1 LARP7 FANCM OPTN ANO10 NELFA NTRK2 FDXR STXBP1 DNAJB6 REPS1 POLG DAB1 TMEM43 SVBP ATP6 SLC30A9 FKRP PURA CYP27A1 SIM1 SCN1A VPS13C ATL1 SDHA LAMB2 PMP22 HSPB1 POMK TCTN2 ACTL6B TREX1 PMPCA ERCC8 HSPB1 VCP CFL2 PEX2 FOXH1 SURF1 MECP2 SERAC1 RNR1 CCN6 ACER3 TRMT10A ARX SLC1A2 PANK2 PTRH2 KMT2A GAS1 HDC SCN8A TRNW TUBB3 DYSF GLB1 SGCD SOX10 ERCC3 KDM5B DOCK3 FGFR2 ISCA1 PDXK CLN3 GNE TINF2 CHRNB1 FGFR1 ASPA PHACTR1 VPS51 DISP1 ATP6AP2 COQ2 CHD2 CYP27B1 GALC ND5 MAP3K20 POMT1 RYR1 SDHAF2 PDYN RLBP1 KCNA2 HPDL LIFR PSEN2 CACNG2 RFT1 SDHD SLC35A2 FGF8 EGR2 REEP2 MMADHC GPHN ARSA DCAF17 WDR4 ALDH18A1 AP4B1 TPP1 ITGA2B KIF1B BEST1 GTPBP2 RP2 SLC52A2 HTRA2 KCND3 AP2M1 AUH FGF8 OTOG SNRPN TTN GPR101 COL6A3 MAG ADSL MPZ ATP5MK HNF1A MAX SAMD12 RYR1 DCPS HTT MME KCNJ10 CXCR4 ERCC8 UNC80 PGAP3 COQ9 GJC2 WDR81 NLGN4X SLC44A1 POLR3A REEP1 TRPM3 ALG3 CYP7B1 NPC1 FANCI NDUFS2 NDUFS1 UBA5 MMAA AP2M1 CCDC88C PEX6 ITPR1 GUF1 SELENON HTT MFSD2A ZIC2 KLHL7 NPC2 SLC5A7 DOK7 PREPL HTT ERLIN1 ITPR1 CERKL LAMP2 NDUFS2 DYNC1H1 SGCB SYNGAP1 DNASE1L3 GRM1 CCDC141 FANCA TRAPPC14 PINK1 MYH7 ZNHIT3 DHFR FBXW11 SCN2A PTCH1 TPM3 MGME1 STUB1 EPG5 L1CAM CNTNAP1 PRKN POLG2 ALG11 APP PMPCB PNPLA8 GCH1 MAT1A DKK1 IFT172 VAMP1 PMP22 CAMK2B ATP2B3 TWNK PLPBP TGM6 ACAT2 CHRND HPRT1 VAC14 SLC2A1 SLC46A1 SLC30A10 RSRC1 KCTD7 CHP1 GALT NRXN1 GEMIN4 TMEM237 TNIK RRM2B PEX12 IFT140 SPTBN2 PNKP MPLKIP DRD5 GLDC TIMM50 NDUFS2 TPI1 FGF14 HSD17B4 GCDH CD59 MYT1L ASPM DARS1 DOK7 DARS2 GNAO1 CDKL5 TANGO2 GAA PIGO SOD1 COL4A1 SPG21 ATL1 BPTF GNB1 SLC6A19 FUS SOX10 BRCA2 RNF113A PRSS12 COL6A1 GARS1 SMN1 TAF1 DOCK7 DEAF1 PLA2G6 SLC39A14 DHTKD1 ADGRG1 PSMD12 TK2 EMC1 PEX6 CHRNA1 NEK9 ATP2B3 TYMP CHRNB1 LONP1 AMPD2 POLG ARSA KYNU ARX MACF1 ACTA1 ERLIN2 RRM2B CPLANE1 PEX6 WDR45B KIF1B SLX4 FBLN5 LEMD3 ATP1A3 VPS37A CACNA1A GABRD ACTA1 HTT SCN2A RAB11B MKS1 DOCK3 SMS LARS2 SGCA RET COQ2 ARL13B MGME1 ASAH1 HNRNPH2 UBE2T ERCC3 CHRNG DRD3 ATRX FLVCR2 CACNA1A PRPF3 SMS ERCC6 ACTL6B NR2F1 MRE11 POMT1 ARV1 PLCB1 DNAJC19 TDGF1 PRKRA ATP13A2 SACS DNMT1 TRAPPC12 PEX5 DDHD1 CHD2 MYOD1 RAI1 NDUFS2 NR2E3 PCARE MAK ALG14 STXBP1 ZEB2 KDM5B PIBF1 PAX6 ERCC4 KCNQ2 ERBB3 INPP5E NALCN OCRL ND4 COL9A3 AR VCP TLR3 RAPSN RAB11A DLL1 MICOS13 ADCY6 SHH CYP2U1 MSTO1 PIGG TBCK MTRR DAG1 MYL2 GFM1 GDAP1 PGAP1 KIF1A TREM2 PRPF6 NARS2 COL6A3 PIGS SPG7 RNF125 BSCL2 BIN1 DYSF MYPN PABPN1 DHDDS SLC25A42 LITAF KAT6A AAAS GCLC ITPR1 AGTPBP1 TMEM43 YEATS2 AUTS2 UCHL1 KCNC3 ABCD1 OCA2 TGIF1 ASCC1 VDR DEAF1 PCYT2 ALG13 NSUN2 ERCC6 TUBB4A ARL3 GABRG2 PDE6A HACE1 NUTM2B-AS1 ANKLE2 MRPS34 GRN GJC2 SAMD12 TTR UFSP2 RBP3 GAA NEB CACNA1G PNPT1 AIMP1 GAN MFN2 MPZ RAB3GAP1 RAD51C AP3B2 LARGE1 MPV17 PRDX1 COL6A1 TGFBR2 CPT1C FKRP ABHD12 MTR MICU1 SPAST GPAA1 TAZ MAOA KLHL41 CCT5 SVBP BAP1 STXBP1 COX1 CSPP1 PEX3 ELN MCCC2 PEX6 MEF2C DCTN1 PET100 SEPTIN9 FLVCR1 ND2 KLHL41 USP9X ND4 IGHMBP2 CHKB COLQ MAFB SLC9A1 SPEG ACTL6B GABRB2 KCNQ5 PAM16 NOTCH2NLC APTX TRNL1 RP9 FRRS1L OPHN1 RHO POLR1D SELENON ACTA1 SLC30A10 RARS1 SMN2 RUBCN DDC UROC1 CYP2U1 DENND5A TRNL1 TRMU PFN1 SLC52A3 ZNF513 GALC TOE1 SLC25A4 ARG1 GSN SLC35C1 ALDH18A1 TSEN54 TFG VPS13A NDUFA12 KLHL40 AMPD2 ATP13A2 TGFB1 FGF17 DARS2 SCN2A DEAF1 FGFR1 FTL PDP1 DES DNM1L UBE3A AFG3L2 MTM1 ZNF469 POMGNT2 JAM3 ND1 TBCK ND5 MICOS13 ACAT1 PAK3 ZEB2 ARID2 CHN1 QDPR GLE1 COL2A1 MYF5 HTRA1 RAC1 KIF15 MATN3 NUP88 BIN1 PLP1 ADCY6 FLNA SLC25A22 SYNE1 ADSS1 PDHA1 TMEM231 BEAN1 GLA GMPPB MED17 NSD2 HS6ST1 ITGA2 MAN2B1 RIC1 PIK3CA DRD2 NLGN3 KIF1B PTCH1 LRP5 MMP2 LMNA NHLRC1 FN1 CHD4 TRPV4 WASHC4 USP8 GJC2 RNASEH2A CIZ1 POLR3A TWIST1 GABBR2 NDUFA4 ACSL4 SCN2A COG4 SLC25A1 TBCD DMD POLR3A IBA57 ALDH5A1 COX8A FUS PYCR2 DNAJC6 BCAT2 SCP2 TCTN2 VANGL1 TSC2 NOVA2 TRNP MAPK1 NDUFS3 PHYH FASTKD2 DNM2 ERCC5 PANK2 SPG21 MRPS16 C12ORF65 VCP PCGF2 FLCN DNAJC13 RPS20 L1CAM LYST NKX2-1 SNRPN ADAMTS13 SCN9A PDK3 PEX11B SLC39A8 NEK2 ATM TUBB2B POMT2 STAC3 NKX6-2 COL6A2 TOR1A SCO2 ZBTB20 CSNK2B HERC1 DNM1L PANK2 FANCE TGFB1 MMP13 CWF19L1 MTOR RFC2 ATXN3 LRAT ELOVL4 VWA3B NDUFAF5 RRM2B PAX7 GARS1 SIX3 TWNK UNC93B1 PRUNE1 PDE10A ATM SZT2 CLN8 SLC2A1 KCNQ3 DNA2 GNAL MMACHC LPIN1 GBE1 OPA1 FKRP NDUFV1 NUP62 SMC1A FLRT1 MTMR14 HSPB3 TRPV4 PRDM16 TSEN34 EDC3 UBE3A ADGRG1 LAMB2 ACTL6A DKK1 UBE3A ERCC2 MFN2 CACNB4 TUBGCP2 OGDH LARGE1 HADHA UBTF SYNJ1 EIF4G1 ACTA1 RNASEH2B RERE MAD2L2 MAPT LTBP4 TRNE TMEM237 ANO3 LAMA2 PGM3 DCC HARS1 SLC46A1 MTFMT CHAT IBA57 SLC25A46 SEC31A TLR4 APTX VRK1 MYT1L PDHA1 AMPD2 GAS1 CSF1R CRB1 COQ8A AP4E1 ANOS1 COPB2 TMEM106B SLC6A19 WARS2 EBF3 STAT4 FITM2 HK1 GTF2H5 PIGC REEP2 MAPK10 UBA5 METTL5 SGCE UBAC2 NIPA1 SCN1B PARS2 BMPR1A ALKBH8 MTHFR COL12A1 RNF170 CACNB4 SLC16A2 HPCA SNAP29 TRMT1 TDP1 ENTPD1 AKT1 JAG1 GDF6 DMD WDR81 ERLIN2 TBK1 ND5 APC ATXN7 NDNF B9D1 GFM2 SARDH ND6 GAN KCNJ18 MAGEL2 FXR1 MRE11 UBAP1 NODAL GRM7 ATAD1 ATP6 RDH12 PMP22 PLP1 PYCR2 FBN1 FUS TREM2 RET C19ORF12 GGT1 TMEM67 C8ORF37 SLC39A13 GARS1 HNRNPDL AP1S2 ASAH1 PIGQ FGF12 SDHA PDHX TOR1A TOR1A GRIA2 CACNA1G TRAPPC11 POMGNT1 CHAMP1 OFD1 TRPC3 PSAT1 DNM2 PPP2R1A FIG4 EFHC1 CNTN2 PTF1A HPGD ALG14 TUBB4A ITM2B ATXN10 DEGS1 MAFB LMNA ERMARD AP4B1 PEX6 PLP1 DNM1L FKTN RFC1 AARS1 LARGE1 DMD FOXH1 PEX11B TPK1 CAPN1 TARS1 PEX1 MRPS25 KNL1 KARS1 KCNQ2 GLRX5 TONSL BRSK2 BRAF RAB18 ERCC1 GABBR2 EXT2 PIK3CA HCN1 GCH1 FARS2 SMN1 FANCG GMPPA MAB21L1 FAR1 TRIM32 ITPR1 COL9A1 MCCC2 ND6 COL6A1 DNMT3A PC SLC12A6 TMEM63A MYOT GJA1 PITX3 TPP1 CLCNKA PIGT TTC19 SCN1A IRF2BPL RRM2B MTO1 INTS1 PEX19 PEX26 SQSTM1 AMACR ARL6IP1 SDHA MADD MAN1B1 COL6A2 KCNB1 GRIN2B FA2H PEX16 FAN1 SLC25A10 TKT NTRK2 TNNT1 CSF1R C11ORF95 FMR1 ATXN8 PDYN KIAA0753 ECM1 SCO2 ATP8 PUF60 PMP22 ELP1 AGA TAF1 FANCF POU3F3 PPP3CA INTS8 PNKP GIGYF2 CACNA1E IMPDH1 NT5C2 POLG EIF2S3 SIX3 AP1S2 PEX12 COASY SMARCB1 DLAT MSH6 BSCL2 GK LAMA2 NOTCH2NLC SACS KCNMA1 MED23 CAMTA1 TCOF1 CAPN3 EIF2B3 PAK1 SYT14 POMT2 SYNGAP1 WWOX XPNPEP3 HSPD1 SLC9A6 SYT1 ECHS1 DLL1 ND1 COL2A1 RNF113A RFXAP CASK SLC6A8 CKAP2L DEAF1 CACNA1A ABCD4 PLA2G6 EPM2A SIK1 IL12A-AS1 TIA1 SLC13A5 CYP2R1 FOXG1 HYLS1 ARX DGUOK NDUFS4 UGP2 ATL3 TACO1 SQSTM1 BSCL2 JPH3 C19ORF12 ANO10 CNKSR2 ATP8A2 THG1L SAR1B CIT KMT2B SLC18A3 PEX1 CUX2 DLL1 TCF20 EXOSC9 KIF5A GALC DHX38 SORL1 FXN COX6A1 DDOST AUTS2 WFS1 VHL POMT2 PMM2 AIFM1 TTN SYT2 PRPH2 SIGMAR1 RPGRIP1L TNRC6A OPA1 SLC29A3 ATP6AP2 CNTNAP2 MAPT KCNQ2 PGM3 MMUT SLC6A17 HIBCH LMNB2 XPA MAN1B1 BCAP31 ATRX SYNJ1 INPP5K COMP KIAA0586 SYNGAP1 PARN COLEC11 DCTN1 WARS1 CEP104 FANCC SNCA CNTN2 MED12 COA7 TPM3 HK1 TWNK DCC ATP7B ABCA4 TAF2 MGAT2 KANK1 PRRT2 KIZ PYROXD1 TBC1D24 HERC1 BICD2 IDH1 FAM126A MAGEL2 FOXRED1 TAF13 ELOVL5 AP4M1 LNPK CLCN4 NEU1 MFSD2A SLC6A8 KIF1A KCNJ10 MAP3K20 PARK7 GRIN1 PLCB1 MECP2 NDUFV2 GCK CERS1 GFPT1 MTTP BCL11B PRKCG GRID2 SIK1 NDUFAF3 PLEKHG5 CNTNAP1 PSEN1 ERCC6 STX16 PMP22 AHI1 SUOX ELOVL4 IQSEC1 DOCK8 NAXE GABRB2 PIK3CA BSND GAS1 PSAP PNKD ZFYVE26 SLC1A4 KBTBD13 RORB AHI1 ATP1A1 PI4KA MYH7 ACADM TRAK1 PEX12 GP1BB MSL3 TSEN2 ADCY5 HNRNPK TRAPPC11 HPCA HIBCH PIGY HSPB8 TGIF1 MAPT CTSF ATAD3A COL10A1 DKC1 TDGF1 ADNP CA4 CD28 KY PGAP1 CA8 PYCR2 KLHL9 SIX3 GTF2E2 ATN1 OPA3 POLR1C GALC TCF4 WWOX FH ABCA2 EGR2 TFG MYH3 GFPT1 GATAD2B MED12L ALDH18A1 TRIM37 DAB1 ASAH1 DCTN1 ALG9 ALS2 GAMT PRPS1 CYP27B1 GFER MICU1 SMPD1 MRM2 RAD51 GP1BA KCNA1 NONO RAPGEF2 WDR45 TCF4 ND6 GNE BAG3 MEN1 KCNQ2 VPS35 CPLANE1 DHX30 WARS2 SLC20A2 SLC7A14 NECAP1 RP1 NEB POMT1 BBS1 KCNMA1 CNGB1 MBOAT7 NEFL STIM1 DCAF17 ATP13A2 PEX3 GCSH AMACR STUB1 CTBP1 UROC1 RYR1 SNX14 MEGF10 CHST3 HUWE1 SAG RAC1 ERCC6 CEP63 VARS1 FUZ PSAP PEX13 GAS1 PODXL NEFL ELN CAMTA1 NUS1 TCIRG1 PNKD ATP1A3 GABRD EMD GRIK2 LARGE1 PAH KIDINS220 PDHB RXYLT1 ND4L RUBCN PSEN1 PMS2 P4HTM PRRT2 NDUFS8 CDON RARS1 GDI1 CC2D2A PLPBP ADCY5 SLC2A1 BCS1L IFT88 ZC4H2 PLA2G6 FGD4 KRAS SLC25A12 CYTB AP5Z1 RPGR OPA3 ATP5F1D FANCD2 IFIH1 KIF14 COL13A1 SPTLC1 SMARCAL1 PUS3 SLC2A1 CAPN1 MARS1 EEF1A2 EEF2 ZNHIT3 SNAP25 AIFM1 ZMYND11 DISP1 SPRY4 ATP1A3 DNA2 CTC1 AP4E1 KCNC3 PDSS1 PNP SLC6A3 RSPRY1 TRNS1 GMPPA ATP1A2 ACD YWHAG DSTYK COMP LMNA SCN4A ZNF81 ND4L IFIH1 MATR3 NRXN1 ATP6AP2 PRDM5 FGFRL1 RNASET2 FBXO7 UGT1A1 AP3D1 ALS2 SALL4 CDK10 ZC4H2 PMP22 ALDH7A1 AAAS CAMK2A PANK2 C4A ACO2 MYH7 MECP2 PSEN1 HNMT TBC1D24 GRIN2B PEX1 DNMT1 ATXN8 LGI4 MFF SGCA KCNQ3 TNFAIP3 ERCC2 JRK FKTN GM2A MSH2 PIGG GDAP1 GMPPB SLC35A1 PCBD1 KIF7 NOP56 ELOVL5 NDUFA12 KIF5A TRNK PPT1 PLEKHG2 TRNF THOC2 NUS1 SOX5 PCNA CEP120 HMGCL ACP5 TRAPPC12 DNM1 RNASEH1 TUSC3 SDHB TTN PLAA OFD1 CDON ANO3 TYROBP MPZ KLC2 ABHD5 WDR26 CDHR1 DEAF1 STRADA STXBP1 CACNA1A CLN5 ASXL3 AGRN ERCC4 SCN8A ATP6 FBN1 CLRN1 PEX16 TPM2 LIPT1 SLCO2A1 CD109 COQ2 ARSA CACNA1G ND2 ADAT3 SNCA COL4A1 APC2 FGF14 DYM PDE10A MAPT CLCN7 TBX1 PIEZO2 VAMP1 NDUFS7 PDGFB ERCC6 ATRX MECP2 PGAP3 CEP126 FKTN ATXN2 TARDBP SPG11 ATP1A2 DNAJC12 SDHD TRNF WASF1 NDUFAF5 TNFRSF1B SYNJ1 TBK1 FOXP1 KDM1A SDHB NSD2 VAMP1 TRNW CYP2R1 NLGN3 PEX19 MAPT ATP6V1A NOG NADK2 ARV1 MPZ FAM149B1 HESX1 NEFL PPP2R2B SLC18A2 TMEM240 FLNC KPTN ZNF41 NDUFS3 FGFR1 PIGP CEP152 ALS2 FTL SPG7 ASXL3 FKRP TRAPPC6B GUF1 EIF2B2 ATAD1 EGR2 COX2 COQ2 KCNC1 OFD1 ND6 ENTPD1 POLG GAD1 SCN8A GRIK2 GBE1 NDP CAMK2A POGZ POMGNT1 TCTN3 TCAP POU3F4 GIGYF2 SEMA3A GNAL PRKN KIF5A ACOX1 SDHA GLUD2 PDHB B4GAT1 CNGA1 NF2 PURA LRP4 CLP1 PCLO ABCC8 SCN2A FMR1 BSCL2 TBC1D24 GUCA1B MYO9A CYFIP2 KCNA2 LMAN2L TMEM127 CLPB COL13A1 RNASEH2C TWNK CIITA ZSWIM6 CCR1 PEX2 UPF3B EIF4G1 RAD51 DUSP6 DHDDS OTUD6B NDUFA9 HCFC1 SYNE1 CLN6 NPHP1 CHRND XRCC2 PDE10A FSCN2 ERCC6 FCSK PMPCA INF2 GDAP2 MYH14 PNPLA6 AHR SLC25A22 LETM1 AGRN AIFM1 RFWD3 XPA TBP GNAS ERCC8 ALDH6A1 PROKR2 MLXIPL FMN2 KBTBD13 IQSEC2 CHMP1A DCC TOR1A SLC52A2 ANOS1 WDR48 ACSL4 LMOD3 MPZ AR BAZ1B CRPPA RNU12 ATL1 PMP22 TXN2 CRADD TANGO2 GRIN1 PRSS12 LDB3 TGFB3 TAF1 CCT5 PRNP SPR PAH TRPV4 CTBP1 DISP1 HARS1 NTRK2 CDKL5 SPG11 SLC6A5 TNFSF11 NOTCH2NLC SLC16A2 PET100 LMNA KCNA1 CLTC IARS2 RAB39B NHLRC2 PGAP2 PUF60 STARD7 MECP2 FKRP CEP85L WDR45 PACS1 MYORG FKTN WASHC5 MTPAP ATP1A3 PIK3CD ARSA ATXN3 PSAP AARS1 ATP10A STN1 DCX DOK7 KCNA1 GJB2 SIGMAR1 NACC1 TBK1 PHGDH DES MYO5A GFM2 MORC2 OFD1 APOB FDX2 PEX10 MEF2C TRAF3 HINT1 MYH7 TH ATN1 MTHFR GMPPB CHRNA1 RYR1 CLCN4 GABRA5 AFF2 COL12A1 AKT1 ACOX1 SORD UBQLN2 MAPT SLC13A5 AR NEB EPAS1 COL6A2 DNM1 DAG1 CDH23 CDON CHRNE AK9 TPP1 NDUFAF6 SPTAN1 GABRA2 ERCC1 NF1 SIL1 FKTN DNAJB6 MYOT EEF1A2 CDH15 DPYS TDGF1 ALS2 KDM5B CACNA2D2 TMEM216 FTSJ1 PDE8B COX15 PCDH12 CWF19L1 ROM1 CDKL5 STXBP1 FLI1 MAPK8IP3 PPM1D TRIM2 ATXN2 ERCC2 NAA10 ARL6IP1 NAGLU ITGB3 MTRR CYB5R3 STXBP1 DNM2 ATXN7 PAX1 LRP4 TPM2 CNPY3 ELP1 STAG2 LMX1B KCNA2 GJB1 PRNP LAMA1 GDAP1 ZC3H14 DCPS MARS1 KIF1A MARS2 SLC25A15 QRICH1 MEFV KCNQ2 SUCLA2 RNASEH2B UGT1A1 GABRG2 GRIN2B KCNA1 NOTCH3 TICAM1 HERC2 CTNNA2 ABCB6 CASK ALG6 SDHC CHRNG CANT1 SPART CNTN1 PLP1 ZFYVE26 CTLA4 FARS2 TTI2 PRRT2 PIGV CHRND CP LINS1 PMP2 SETX TENM4 FRRS1L TUBB4A FKRP DDX6 ATCAY PQBP1 DYNC1H1 COG5 CHD7 GABRA3 PROC KNL1 DNAL4 KIF1C C12ORF65 WIPI2 SPG7 EEF2 ATP6AP2 GLI2 LBR GLRB SLC6A3 COL9A2 SPG11 IL12A TTN MMUT IQSEC2 PEX7 PRRT2 SCYL2 SET CLP1 XPC ELP2 MYOT SPEG SGCE TXN2 FBXO7 LIFR EIF2B5 LMNB1 TACO1 GARS1 PLP1 MYO5A ALDH18A1 LYRM7 ARL2BP ACTA1 SCN9A RAPSN SCARB2 ASH1L TARDBP TTPA UPB1 PIGL CACNA1A PEX10 ND2 GBE1 DHPS RAI1 AGBL5 ERLIN2 POMT1 PROM1 PALB2 TMEM106B CILK1 C12ORF65 SLC2A1 UFC1 TTBK2 PIGT ATP13A2 TSPYL1 STAMBP RFXANK STXBP1 PRPS1 KCNK4 TBP PLAA KLHL41 ADA2 LIMK1 CHCHD10 HMGA2 IDH3A EP300 SPART STUB1 MCCC1 SNX14 POLG DMD RHOBTB2 SNRPN BRAT1 NSUN2 DNMT1 LMNB1 HNRNPK ND1 NTN1 NDE1 SLC39A8 MUSK PNPO ATRX COL10A1 RAB39B POLG FLNC ERCC2 SCN1A MPZ MLH1 PEX1 GABRA1 RNF168 NT5C2 RARS2 GRIN2D ARCN1 PIGV SUCLG1 IDUA MCOLN1 GNE GDAP1 SIM1 NEU1 GABRA1 B4GALNT1 TGIF1 MAPT ALG2 ZMIZ1 PMP22 HDAC4 TSC1 ATP1A3 GOT2 CHRNA2 DPM3 PKDCC CNTNAP2 TSHR SEMA4A TRMT5 TRIM8 POPDC3 TRNS2 PRNP SURF1 PIK3R5 NDUFA1 DHX16 DNAJC6 GBA MECP2 ZFR MYPN RUSC2 LIPT1 PTCH1 EIF2AK3 SLC18A3 ACAN ARL6 SEPSECS GCH1 CUX2 CDKL5 HTRA1 CPT1A PCCB ATXN8OS NEK1 SPTAN1 NEFH GPHN METTL23 ATXN3 HSD17B10 YME1L1 PNKP DAG1 TRNL2 IQSEC1 GBA2 PRNP HIVEP2 HNRNPA1 PRPF4 ADAR KIF1A MLH3 SH3TC2 ITPR1 TSEN15 YY1 COL4A1 STAG2 LRAT SETX CRX NSD1 BOLA3 MAPT KIAA1549 SLC6A17 MFN2 C12ORF4 GABRD PSEN1 DNAJC3 DDX3X ADGRV1 ATP7B BCR IFRD1 LRP12 SNAP29 SCN3A GLB1 PLP1 SNAP25 DLL1 EXTL3 ARL6 PLA2G6 EXOSC3 VCP CDK19 SETX ISCA2 PRPH ERCC4 RPS6KA3 TMEM67 GRIA3 PIGN TRNH ACTA1 CHRNA1 INPP5K ITPR1 AGTR2 GJB1 PRPS1 UCHL1 POLR3B DDB2 CASK CNNM2 SHH COL6A2 POMGNT1 FKRP GPR88 RORA YY1 ARX AARS2 AARS1 ALG2 CEP120 C9ORF72 CPLX1 NKX2-1 PLOD1 PLEC RAB39B RAB39B FHL1 KCNQ5 PRPS1 MECP2 DYM CLIP2 LINS1 SLC13A5 SLC25A4 B3GALNT2 DST ARMC9 SIX3 FOXG1 TELO2 TIMM8A CEP135 POLG THOC2 CLCNKB SNRNP200 LRSAM1 CKAP2L GABRG2 POLG PDGFB PTS SCN9A CYP7B1 COL2A1 KLHL41 SQSTM1 LAMP2 RANBP2 TRNL1 SPG11 HPDL NRAS DNAJC5 PEX2 PCCA QARS1 ABCB7 NTRK2 PACS2 ST3GAL3 SHH ITM2B PDE6B TRNV TANC2 SYNGAP1 NEXMIF OCRL SLC17A5 GMPPB NAGA IDUA GBA TSPAN7 SCARB2 C12ORF65 FAM161A GRIN2A TRNH ORAI1 ADRA2B COASY SASS6 HUWE1 IDH3B CACNA1S EGF MAST1 TAOK1 PRPS1 MARCHF6 NEFH WDR73 SUFU TKFC SIL1 APP DALRD3 SPR CLCN2 CTDP1 ATP6 HSD17B10 EYA1 SLC2A3 PLP1 TRNQ PHC1 XRCC4 VAMP1 MECP2 TH ND3 CACNA1H ARSI MSTO1 NOL3 C9ORF72 POLR3B RTN2 FBXL4 FAT2 CAPN3 AP3B2 CCN6 DDX6 RELA CA8 GPAA1 KCNA1 SEMA4A SCN4A NDUFV1 UBA5 TGM6 SCN4A TRAF7 MCOLN1 ST3GAL5 CIC GPT2 NDUFA13 BCORL1 PIGW REEP1 COG7 MID2 PDE10A STAG2 PSAP ABAT SNCA PTEN GATAD2B C19ORF12 NACC1 SNCA NUP214 HLA-DQB1 TACR3 GLYCTK PEX14 EIF2AK2 DBH ACTN2 WNK1 ND5 SLC25A21 PPP2R2B OPHN1 NAGS HTRA2 DYRK1A AP5Z1 PIK3R5 SMO NONO MAPT CSTB MCPH1 AFG3L2 CHMP2B ZNF142 IL1RAPL1 POLG DPM3 UGDH CTH SELENOI NDUFB8 POMT1 FBXO31 CFAP43 VPS13A TBL2 BBS2 POC1A POMT1 GRIN1 NEXMIF SARS1 TRAPPC9 NOP56 CAD GBA2 GRIN1 CDKL5 BICD2 TPM3 SMARCB1 TRNT BRCA1 BSCL2 B3GALNT2 PSMB8 CRKL CACNA1D OPA3 CRAT LRRK2 MRPL12 GOSR2 TCTN1 CDON SRPX2 SLC18A3 MED25 FXN FOXRED1 DDHD1 OPA1 JPH1 MARCHF6 CACNA1B HEXB ORAI1 TFG GABRB3 DNAJC3 MYPN TK2 ZIC2 VLDLR ITGA7 PRRT2 FKBP10 MATN3 TRIT1 PRX ABCA1 EXT2 CHRNE USP27X XRCC1 KCNK9 KCNJ6 TGFB2 DCC ZC4H2 SKI AIFM1 LARGE1 PRDM8 ALPL SAMD9L TRNW SMC1A PRNP RTTN RFX5 DLAT SLC25A1 PTCH1 PRNP MPZ B3GALT6 YEATS2 GLI2 RP1L1 PCDH19 TBP NDUFA13 NIPA1 LGI4 SLC6A1 PDGFB COX3 ATP7A HGSNAT GLUL ABCC6 ADAR DGUOK CRPPA ERLIN1 WWOX CYB5A HPRT1 ALG1 PIGP COQ8A PRX CARS2 MMADHC NCAPD3 KCNA4 TMEM70 EMD ALS2 NKX6-2 AUH PLEKHG4 TRNL1 PEX5 DMXL2 TPM2 GNB4 MECR GNAO1 SYT2 HSD17B10 PPP3CA WHCR DLG3 DHH MTMR14 COX1 STXBP1 FGFR3 EP300 SPTBN2 NDUFS4 MFF PTH1R HCFC1 INPP5E TRAPPC11 MECP2 VDR ERCC4 TTPA ALS2 CTDP1 COL2A1 USP7 POMT1 SLC25A11 CTNND2 FLII CLIC2 ATP6 RTEL1 COA8 TOE1 RLIM NEU1 HLA-B DHH

SNP 1

rs1360780