SNPMiner Trials by Shray Alag

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Report for SNP rs1360780

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Neurobiological Studies of Functional Movement Disorders and Non-Epileptic Seizures

This study is part of a series of studies that will explore how the mind and the brain work to cause episodes of uncontrollable shaking in people who have no known underlying brain or medical disorder. The study is conducted at NIH and at the Brown University Rhode Island Hospital. Healthy volunteers and people with functional movement disorders (FMD) or non-epileptic seizures (NES) who are 18 years of age or older may be eligible for this study. Patients with NES have 3 teaspoons of blood drawn. The blood is tested for two genes that are normally found in healthy individuals to see if they are found more frequently in patients with uncontrolled shaking. Patients with FMD have blood drawn for testing and also undergo functional magnetic resonance imaging (fMRI) to look at how the brain functions while the subject performs a specific task. MRI uses a strong magnetic field and radio waves to obtain images of body organs and tissues. During the scan, the subject lies on a table that can slide in and out of the scanner, a metal cylinder. The scan lasts about 60 to 90 minutes, during which the subject may be asked to lie still for up to 10 minutes at a time and to perform tasks, such as identifying the gender of faces shown on a screen. Healthy volunteers may have blood drawn for genetic testing or fMRI or both.

NCT00500994 Movement Disorders Device: MRI
MeSH:Seizures Movement Disorders Disease Conversion Disorder
HPO:Abnormality of movement Bilateral tonic-clonic seizure Focal-onset seizure Generalized-onset seizure Seizure

Exploratory objectives are to investigate in CD patients: - The frequency of several gene polymorphisms that are implicated in stress and affective disorder, including 5HTTLPR S/S (serotonin receptor), COMT (catechol-o-methyltransferase enzyme), Val/Met BDNF (brain-derived neurotrophic factor) and FKBP5 rs1360780 genotypes, as well as other polymorphisms or mutations to be determined later.

Primary Outcomes

Description: fMRI BOLD signal change focusing on regions of interest during emotional valence task

Measure: fMRI study: blood oxygenation level dependent (BOLD) signal in the regions of interest during a gender identification task

Time: throughout

Description: The S/S genotype of the 5HTTLPR polymorphism

Measure: Genetics: S/S genotype of the serotonin transporter promoter region polymorphism.

Time: throughout

Description: Structural grey matter brain data

Measure: Anatomical MRI: VBM

Time: throughout

HPO Nodes

HP:0001250: Seizure
Genes 2672
TWIST1 VPS11 CTBP1 SLC1A4 HEPACAM SLC12A6 ELMO2 PHF6 GLRA1 KCNJ1 PIGH TCIRG1 MCPH1 EDN3 MICOS13 SYNJ1 CLN6 PRRT2 IL17F KCNAB2 CHRNA4 ARHGAP31 ARX COX1 SAMD12 TSFM FGFR3 EPCAM POLG CLP1 ATP1A3 PLPBP UPF3B GABRG2 CASP10 KCNJ11 CC2D2A SIX3 MOGS NLGN3 SLC2A1 NDUFS7 CHD2 TMEM138 PCYT1A SLC13A5 NSD1 FGFR3 ERMARD SCN8A ARHGEF6 KMT2A HCCS GLA CCR1 WWOX TRNL1 PRRT2 LAMA2 AUH CNPY3 BPTF NUP133 GABRD HAX1 IREB2 ANOS1 VPS13A B9D1 KCNK4 FAM111A ARX HESX1 NDUFAF6 DLG4 GBA RPIA ZC3H14 ATP6AP2 SCN1A TRNT CAMK2B CPS1 MARCHF6 GNAS BCOR ESCO2 TCTN2 PRRT2 FTL MECP2 DHFR OCLN POMGNT1 KMT2D SARDH TREX1 SLC19A2 HGSNAT SERAC1 SCN8A BUB3 DDX3X NALCN ARL3 AQP2 GABRG2 ATRX AKT3 SCARB2 ARSA KDM6B PLP1 ATP5F1D TBR1 GLA SYN1 FGFR1 FA2H PEX7 LYST NDUFV1 FBXO11 NBAS FAR1 RAB18 FLRT3 ARSA IQCB1 TBC1D20 ROGDI CILK1 ABCC8 MPL SLC16A1 TOE1 MFSD8 FGF8 SALL4 JAM2 SDHA EBP SRD5A3 LMAN2L NEXMIF CPT2 NHLRC1 EEF1A2 MAGEL2 CLPB UFD1 LETM1 TDGF1 HTRA1 KIAA0586 SNORD115-1 ZFYVE26 CTC1 HACE1 RAC1 TBCE ATP6V1B2 SH2B1 RARS1 MECP2 SPTAN1 GPC1 KIF2A CASQ2 COX6B1 MTR SLC9A6 NTRK2 PPP2R5D DNMT3A DCC COX14 TRNW GPR161 EP300 POU3F4 AIFM1 CLTC ALG13 BAP1 B3GALNT2 TSC2 ANKRD11 EXTL3 DEAF1 ITPA SIN3A HESX1 GABRA1 HCN1 HESX1 FKTN PLK4 CACNB4 PIGP ALG9 CRPPA NDUFS6 ZFP57 FGFR2 NFIX IL23R TULP1 PEX12 ERCC3 TSEN54 EFTUD2 FRRS1L UBA5 ATP13A2 SMAD4 PEX5 L1CAM PDHX ATP6V0A2 ERLIN2 NANS BTD GNAO1 ADAR BCR CEP41 PCK1 IQSEC2 IFIH1 ATP5F1A CARS2 DNAJC5 CRIPT PGAP1 MLC1 KCNE1 STT3A STAG2 MSH6 CFHR1 CREBBP OTUD6B TPK1 MN1 POLG CTSA ATP1A2 DIAPH1 DCC UGP2 PREPL SLC25A1 PARS2 ACADM IQSEC1 FKTN IRAK1 MEN1 ATRX CC2D2A MAST1 RAB39B EZH2 GCK UNC93B1 TNFRSF11B ND6 AKT1 CIC VPS53 NSD2 TRAPPC12 FBP1 RAB18 CHRNA7 PEX2 SLC22A5 ASPA HMGCL APP MED12 PPP2R1A LARS2 VPS13B TRNL1 GUCY2D NODAL TANGO2 KCNA1 PRDX1 KCNMA1 PEX13 SMARCE1 ALPL SLC18A3 KIAA1109 MTFMT HECW2 FA2H KCNJ10 USP7 PPP2R1A HUWE1 ARX PTEN ERMARD BRAT1 PIGN PIGT ST3GAL3 KCNA1 RPL10 NDUFAF3 NIPA1 PTEN SCN2A PRRT2 KCNA2 TCF4 HIVEP2 CYB5R3 NUS1 ERCC4 DLL1 QARS1 ATP6AP2 TRNF MTRR L2HGDH FLVCR1 ND6 NR2F1 GNAS MED12 SCN1B POU1F1 PDE6D PAH ASAH1 SDHD CAMKMT DNM1 ABCC8 ASNS NSDHL EIF2B3 GRM1 RTTN ABCC8 SC5D STXBP1 NAGS CHD1 STRADA PRICKLE1 PMS2 PIGM MANBA FKRP MAPK8IP3 TACO1 SMARCD1 POLA1 UBTF TRNF RPS6KA3 NAT8L OTC MSX2 PIGL PDCD10 AVPR2 CPT2 AMER1 ISCA1 GCDH SPATA5 FGFR3 TUBB3 PRDM16 VAMP2 MRPS22 PLA2G6 PRRT2 STX1B FTSJ1 HLCS MANBA MED12 TBCK PROP1 TNFRSF11A ARHGAP31 HNRNPU PIGC SLC9A6 PEX13 COG4 RREB1 PEX11B AP4M1 CAD TSC2 STT3B LBR PAH TUBGCP4 GABRD PHOX2B SCN2A RFT1 ABCD1 GYS2 PEX3 PC NAGA FAM111A FMN2 RET ACTB GLI3 USP18 HTRA2 PEX19 PEX1 PIGP GABRA1 TRMT10A CACNA1A POMK MYO5A RPE65 BDNF CYTB NAGLU COA8 TMTC3 PPT1 POMGNT1 KIF5A KCNJ11 SMARCB1 COQ8A TRDN SP110 HLA-B KCNMA1 PSMD12 PIGW BCOR CNTNAP1 APP FAS CNKSR2 MMACHC TMEM165 MBTPS2 NEU1 MOGS DISP1 FCSK ERCC5 SNTA1 MTHFD1 COX10 LRP2 ADAT3 PEX2 SEMA4A ATP6V0A2 TWNK COG2 BCL11B FGFR3 EEF1A2 NAA10 GLI3 CYFIP2 EIF2B5 PIK3CA TBC1D24 ATIC CCBE1 PRDM8 DOCK7 TRAF3 BCKDHA TOE1 SOX2 TRAF7 MKS1 TRAPPC2L PCYT2 C12ORF4 GMPPB EARS2 ZDHHC9 TREX1 GP1BB RHOBTB2 NEDD4L HPD PIK3CA EPRS1 MIPEP SLC12A3 SLC12A5 GLYCTK PTCHD1 ACSL4 MC1R CERT1 TACO1 TET3 PGAP2 ATN1 SLC6A8 PEX11B BSCL2 HLCS PCNT COL3A1 SLC17A5 ADAT3 LIG4 TRNS1 GBA ERCC6 ALG3 BMPR1A GABRA1 ERCC3 FGFR2 EXT2 SMC3 SLC2A1 SCN3A EPG5 SLC25A22 CACNA1A PIK3R2 FMN2 NDUFV2 TRNP POLG CLCNKB WDR26 BRAT1 IRF3 BRAF CRKL FAM111A CACNA1E NAGA FMR1 PTS LGI1 RTTN STAT4 AP4S1 MMADHC YEATS2 CDK13 TMEM106B GABRB3 TBCE CBS PIGO HRAS ATP6 SNAP29 ADAMTS3 PIGL ACSF3 PAK3 OAT CERS1 GLI2 STXBP1 L1CAM CDC42 TMEM67 TBX1 SLC25A15 CD96 CNTNAP2 GMPPB MLH1 DPH1 MPC1 CYP27B1 RPGRIP1L SETD5 OTUD6B TUBB2A MECP2 BMP4 PRPS1 ENG KIF11 POGZ PHKG2 DDOST NMNAT1 ND4 MGAT2 PPP2CA PRNP CNTNAP2 KCNT2 SCN11A ASXL2 KDM5C PEX10 ACY1 DHCR24 DHX37 PIGW DMD TMEM106B SNRPN SLC35A3 TBC1D24 FRRS1L CHRNA2 FOXRED1 TRAPPC4 PEX6 MTFMT AKT2 CDK10 SCN1A RNU12 PHKA2 RNASEH2A KCNQ3 PERP ETHE1 CBS UPB1 TRNV PSAP NDUFB11 SLC25A19 PDE10A AHI1 SMARCE1 ZSWIM6 TMX2 KIF7 ANKRD11 CACNA1D CUL4B NDUFB11 ANKLE2 BUB1B SYNJ1 GM2A CALM2 TDP1 SCN3A AMT CRX RNASET2 MCCC2 TBCE FAT4 KDM6A RPS6KA3 CLIC2 CFHR3 OSGEP SNX14 SMS PIGY NDUFS1 TMEM231 LIPT1 SOX3 HTT ALDH4A1 SUCLA2 EIF2B4 PSAP JAK2 NARS2 SURF1 CDKL5 TREM2 NOTCH3 NUS1 SPTAN1 NUBPL NDUFS8 NADK2 GSS GABRB3 DPM2 GABRG2 ATR RRM2B GNAQ ADGRV1 TRNC CLIC2 TSC1 CACNA1C FGFRL1 FUT8 DPYD GDNF PDP1 TBX1 WDR4 SYNJ1 HADH JRK ADD3 CDKL5 ALG11 ACY1 CHRNA7 ZNF592 TRAK1 XPC PPP3CA KANSL1 NDUFAF8 AIPL1 ERCC8 AP4E1 SLC5A7 PHGDH HRAS TRNQ TRIP12 CYP27B1 IL1RAPL1 RARS2 CACNA1C GABRA2 KMT2A GPSM2 KDM5C MTOR DIP2B TBCD SCN10A COL13A1 DOCK6 ZC4H2 LRP2 PEX1 ALG3 GCH1 CLCN2 UFC1 SIX3 WWOX NRAS DNAJC6 PLAGL1 NTNG2 NADK2 MLYCD AKT3 RPGRIP1L DLL4 MBOAT7 RERE UQCC2 ROBO3 CTSA NDN MAPK1 GCK LAMA2 CTU2 MBOAT7 LRPPRC TRAPPC6B ASPM HNRNPH2 XPR1 TRNS1 GAMT GRM1 TBC1D24 CCDC141 CPLANE1 PUS3 TSPAN7 CCDC141 KAT6A PTPN22 RAI1 SPP1 STAMBP HLA-DPB1 PRRT2 TMEM216 DHDDS RDH12 CDON FARS2 PPA2 CLN3 ASXL3 TRNS1 SRPX2 TECPR2 ARX ROBO1 TWNK ARSA TRNH NAGS PEX11B PIGV PEX6 CEP290 MED12 CACNA1A TMEM237 CRADD RPL10 DARS2 MYO9A PEX14 RNR1 PROP1 GPT2 IL12A PRF1 DMXL2 SLC6A5 FCGR2B TUBA1A SCN10A FAR1 GTPBP2 KCNQ2 MMAA CAV3 PEX12 SGPL1 METTL23 MOCS2 GRN CC2D2A ZNHIT3 DHCR24 FIG4 GABRB2 ABCC8 GCDH ARNT2 NSDHL NDUFAF5 NDUFA12 ADA2 NSD2 FRMPD4 SDHA CACNB4 TBL1XR1 LNPK NECAP1 MTOR NPRL3 KCNQ5 POMK CLN6 ALG1 KCNJ11 SLC25A15 FUCA1 VPS11 COA3 ARX HESX1 SUCLG1 MTM1 VDR PRSS12 ERCC6 GUF1 AP4B1 CNTN2 CDKL5 CHKB TRMT10A STXBP1 NELFA RXYLT1 NECTIN1 COX1 TBX1 CLP1 NSUN2 SLC12A5 DNM1L TRRAP RAB11B RPGRIP1L RSRC1 ASH1L ST3GAL3 PCSK1 PRTN3 EMC1 CCDC115 WDR81 DPM1 ZEB2 PCDH19 SLC35A1 CNNM2 PCDH19 PROKR2 PTS KCNA2 TARS1 ZNF711 FLVCR2 ALMS1 COX15 SYNGAP1 SON ATP8A2 STX16 OCLN KDM6A TUBGCP6 GATA6 NDE1 FGF17 GDI1 LHX4 GRN ARG1 RNASEH2C IL17RA COQ6 WDR45 CDKL5 NSD1 ERCC2 GPT2 BUB1 SYP COX2 COX20 RAB27A GPHN USP9X ANKH HDAC4 PPM1B GLS DOLK KCNQ2 IARS1 COG2 FAS IPW SNORD118 SLC2A1 PYCR2 ARFGEF2 CPLANE1 ARX DOCK6 GLUD1 PEX2 ASAH1 SCN2A SON STT3B PRKAG2 SATB2 TECPR2 MFSD2A FKRP BRAF OPA1 USP45 DEAF1 ACO2 KCNE2 GBA NALCN KCNE1 SCO1 NDUFAF6 ARID1A ADRA2B ALDH7A1 ATP6V1A SLC46A1 DLG3 SLC1A3 RANBP2 KAT6B ABCA5 FGFR1 CRADD LSS ACTL6B FTSJ1 CDH15 ALG11 KMT5B CSF1R TREX1 TRNP LINS1 EGF CPT2 CTNNB1 HADHA COX7B RAB3GAP2 SETD2 PET100 SAMD9 DBT GNE GLI3 GP1BA ARX CASK COG8 WDR11 CENPE ATP1A3 PDCD10 RFT1 SCN9A CSPP1 SLC25A20 NRAS GNAO1 CXORF56 GNAQ WARS2 AUH ALDH3A2 ECE1 PEX10 HIBCH UBE2A SIK1 SERPINI1 CPLX1 NTRK2 MYO1H SLC2A1 CC2D2A COX3 GABRB1 LAMA2 HCN1 ATRX TRNI ZIC2 PGK1 KAT6A MECP2 MYORG SUCLA2 TDP2 CTNNB1 KCNH1 HDAC8 NIPBL ASXL1 DCPS KATNIP PTRH2 RSRC1 ANK1 CDKL5 CA8 ALDOB NDUFAF5 LETM1 AVPR2 GRIN2A CNNM2 INS SLC13A5 PIGC MBTPS2 TWNK ABCC8 TRAF7 PIGN GABBR2 APC2 STARD7 AP2M1 PIGA AIFM1 TPRKB MORC2 CAMK2A TP53 PMPCB ATN1 GAD1 CDH23 EBP GTPBP3 ASXL3 HUWE1 KRIT1 AMPD2 ANO10 NOTCH2NLC PROKR2 KCNQ2 WAC TREM2 NIN DPYS TRIM8 ASXL1 MYO5A TXNRD2 MECP2 SLC19A3 HMGCS2 PNPO TRNN FBP1 HERC2 SLC46A1 ANK2 NOTCH1 IER3IP1 ADAMTSL2 TSC2 CYFIP2 CTNND2 TRAF3IP2 VCP FAN1 PUM1 PLA2G6 ZNF423 NDUFAF4 DPF2 NDUFAF2 TYROBP NSUN2 CUL4B EFTUD2 AIMP1 MBD5 TWNK NNT CCDC88A SCN2A PROK2 TICAM1 GNE TERT ACVR1 KLLN ENG TTR DNM1 ATP6V0A2 INPP5E TRNF XPA SORL1 LMX1B PSPH KCNJ5 GJC2 OCRL USP27X PPP1R15B PIGT KIF4A MC2R PNPO KCNN3 ARHGEF9 SRPX2 DHCR7 PDE4D ATAD1 TK2 OPHN1 GFAP RASGRP1 PSPH POGZ ANTXR1 PSEN1 AP4M1 NDUFA1 KCNQ3 PTF1A PCDH12 ADGRG1 KCNH2 TMEM237 KIF7 SCN9A EHMT1 IBA57 HCN1 KIAA0753 GNB1 DNMT3A KLF13 LARGE1 RPL10 NNT HNF4A PQBP1 ARG1 FRG1 FOXG1 GRIA4 CTSF NDUFA2 SLC3A1 ATXN10 CEP290 ALPL GLS ANKRD11 GLI2 JRK TRAPPC9 TUBB3 CRLF1 FOXA2 WDR73 KAT6B PLCB1 MPDU1 SDHA WDR4 TP53 PDX1 POMK PACS1 PIK3CA TP53RK KRAS TIMMDC1 GOT2 ND5 KRAS SET SPAST SLC1A3 PPP3CA NDUFS3 AP4E1 FBXL4 PEX13 WHCR SMARCE1 MAPRE2 TRIO METTL23 STX1B TGDS HMBS ERMARD ATP6AP2 HCCS TREX1 RELN DNASE1 ARF1 DPM2 GLRA1 PSEN1 USF3 CCNQ STUB1 FKTN ATIC USP9X ND5 SLC35A2 ANGPTL6 B3GALNT2 CAMTA1 PEX16 PEX3 NDE1 PIGA CHD7 ZNF142 EIF2AK3 ENG SCN1A RAB39B ARF1 UBA5 SIK1 USP9X KRIT1 MBTPS2 CLEC7A BTD SLC25A42 KPTN KCNQ2 PEX14 MAP1B ERLIN2 JAM2 WDR73 TRNK FGFR1 LMNB2 FUCA1 TUBA8 GNB1 PROKR2 KMT2D FGFR3 CAMTA1 GLB1 SLC6A8 CHD2 CLCN4 LMAN2L TSC2 NKX6-2 KCNJ13 POMT1 CHRNB2 TOMM40 SGSH SLC13A5 B4GAT1 ARID1B PTEN RUBCN SCN8A SCN8A TCF4 GPC3 SASS6 MEFV NDUFV1 OSTM1 CTLA4 DEPDC5 CLTC KCNQ1 ATRX ADSL BOLA3 SETBP1 SLC1A2 MED25 SLC2A1 TSC1 TRAK1 ATM KCNH1 FXYD2 MTRR RNASEH2A PEX1 TUBA8 ADGRV1 NFIX DHDDS DHPS ND4 PROC MLH3 LGI4 MSH2 RNF213 POLG2 ATP7A ALDH7A1 KCNQ3 MEGF10 TWNK EEF1A2 CFH ATP1A3 COL3A1 MTHFS PAFAH1B1 WDR45 ABAT GJA1 AKT1 SDHB ARX TRNL1 SLC2A1 DYNC1I2 EGF RNF113A SETBP1 RAI1 ANK3 HIBCH SLC35A2 TFAP2A L2HGDH PTCH1 KCNH1 PIGQ DLD INPP5E GATAD2B PDSS2 HDAC8 CKAP2L KCNH1 PEX12 PCCA CLDN16 PEX10 NEK1 HADH NUP107 CUX2 GABRG2 MAPT CACNA1B TRAPPC12 TIMM50 SMARCB1 COX8A NRAS ARX KCNT1 STX11 AGA YWHAG SEPSECS RAD21 TBX19 NEDD4L C4A CASK MBD5 ALDH18A1 PURA FLCN RPS6KA3 EXOSC9 SLC39A8 SCN8A MMACHC PSAT1 COL4A2 BCS1L SLC25A20 PSMB8 DSTYK EIF3F KLHL7 LAMB1 WFS1 PEX12 TRAPPC11 CUX2 TRAPPC9 VARS1 GEMIN4 TCTN1 NDUFA11 TSEN54 TAF1 CRB1 KISS1R TPP1 ASCL1 MED23 OFD1 NTNG1 PDGFRB HYMAI ALKBH8 TRAPPC11 SSR4 OCRL PIK3R2 ARL13B ACTL6B SUFU ALX4 FAM126A SCN1B ATAD3A HSD17B4 KCNB1 ACAT1 PMM2 CEP104 AKT2 ND5 COG8 LARP7 TUBB2B TP53 SDHD LIAS NF2 FAS NPC1 AP4B1 GAMT PIGY COL18A1 KCTD7 CEP57 PSAP ETHE1 NTRK2 AGRN TUBB4A CLN5 POLG ERCC6 SMO SELENOI CPT1A NSD1 TK2 CTLA4 MACF1 HNF1A GRIN2B GPHN C12ORF57 PRDM8 TGFB1 SUMF1 OFD1 DGUOK ARMC9 POMGNT1 POMT1 SNRPN GALC PHF6 GCK COG6 ERCC2 COMT POMT2 GABRA1 STAT4 PEX5 PEX26 RAB27A PLAA ERAP1 MAFB GJC2 SOX5 NEU1 IVD KDM5B GTPBP3 NOTCH1 PPP2R5D PTH PDSS2 HIRA KCNQ1 TBCK PEX19 AKT1 PLA2G6 RNF125 GCK CPLX1 WFS1 PMS1 RAC1 TMEM94 ATN1 GNAO1 MAN1B1 TRNF SEC23B MICAL1 ZNF41 RERE ALX4 DNAJC6 IRF2BPL TBC1D24 HLA-B SDHD CYTB TRIO PROKR2 NAGA COL18A1 DDB2 ERLIN2 TRPV3 MEFV GATA4 C11ORF95 SYP NDST1 PACS1 NDUFA10 BCS1L SCN9A PLAGL1 GLRB NDUFS1 KCNC3 NTRK2 ND3 EIF2B1 MYH3 SLC9A7 ELOVL4 CEP164 SLC12A1 RYR2 SOX10 ND6 PWRN1 MED12 RPS20 CLPP SRPX2 FGFR2 KMT2A AGA GABRG2 NOTCH3 FGF12 PIBF1 IQSEC2 SLC13A5 ARID2 BCKDK NDUFA4 SLC35C1 CRBN PAH EIF2S3 ABCC8 PGAP1 SCN1B PDHA1 KCNA2 LMBRD1 MMADHC DNM1L AMACR ADA2 PMM2 ITGB6 TRNL1 HDAC8 MTO1 ALG2 GABBR2 PEX16 HSPD1 SLC33A1 OTX2 ARMC9 GNB5 TRIT1 ND1 ALAD C9ORF72 SCN2A OSTM1 PIK3CA CSNK2B DHCR7 RAB3GAP1 KMT2E BCKDHB GLUL TREX1 MGP SCN3A AMACR IL17RC PSAP ATXN10 NDUFB8 CCM2 SLC1A4 CCDC88C TCTN3 NF1 RECQL4 NGLY1 PEX16 SARS1 POLG KRAS TRAPPC11 ADSL SETBP1 ERCC5 TBX19 KRAS PGAP3 NDUFA13 GRIN1 TDP2 RNU4ATAC COQ8A TBC1D24 B3GLCT RAI1 HCFC1 KCNT1 ERCC1 COX7B GYS1 MEF2C NEUROD2 WASF1 POMGNT2 ARSA MEF2C PIK3CA CLCN2 NCAPD3 ND1 GALC CILK1 HS6ST1 PSAP SLC6A19 ALDOB SCN1A LAS1L SLC45A1 CNPY3 ARFGEF2 ND1 RELN LAGE3 COQ2 GAL HNF1B NAXD ATP1A1 SLC39A8 COX10 PIGG MC2R NACC1 DCX GABBR2 BCORL1 SLC25A1 POMC PSAP PRKDC PDGFB ADPRS ALG9 FKTN TBCE SLC12A6 FLNA MARCHF6 CASQ2 GBA NFASC UBE3A GNAS IKBKG PHOX2B HMGCL KCNJ11 TAT TGFBR2 AFG3L2 MED17 SIK1 CPA6 MECP2 SMPD1 NHLRC2 MYH14 HADHA SCN1A LARGE1 KCNQ2 INSR SPR SDHAF1 IKBKG POMT1 HCFC1 POLG POLE GLDC HEXA WDR11 POLG2 WDR45 EXTL3 TRNS2 PAFAH1B1 NDUFS4 UBA1 HS6ST2 GK SIN3A BCOR HTT PIGO POMT2 ASS1 TLK2 BCAP31 ARX POMT1 UBTF NONO COA8 ACTG1 GRIN2D CLPB SCN5A NDUFB8 THSD1 CASK TYROBP ARID1B ACSF3 GRIK2 TBK1 TREM2 TNIK BAP1 CRLF1 MMUT APP CEP41 NONO CDK8 CPA6 IFNG PQBP1 YWHAE MED25 ATAD1 SLC6A1 PTEN MEN1 MPDZ KIF15 GRIN2A ROGDI PEX5 TACR3 PSEN1 IL12B ACTG1 RNU4ATAC ACADSB ZNHIT3 GRIN2A PIGL NPRL2 ATM PIK3R2 INS SURF1 L1CAM CHD1 PRPS1 KCNQ3 PIGV STXBP1 FMR1 SMC1A RPGRIP1 ALG13 AKT1 FH GBA PACS2 PUF60 SLC35A3 DIS3L2 TSEN15 SMARCB1 SQSTM1 PGM3 DUSP6 ALG1 FOLR1 ERCC2 PDHA1 RUBCN TBC1D24 TBCE FLII JAM3 RANBP2 TBK1 FRMPD4 PNKP B3GALNT2 NDST1 SNORD116-1 NSMF DOCK7 ABCA7 NDUFS2 GLI3 EXT2 EOGT CHAT TSC1 ARL6IP6 ATP6V1A HMBS HIC1 GP1BB DLD F8 CXCR4 TRNK ATP2A2 TBCE MAN1B1 GATA6 GABRD POMT2 ADK SLC20A2 TBCD GRIN2B COLGALT1 PEX10 AFG3L2 SAMD12 APP NACC1 RAPGEF2 COG4 SMARCA4 SLC25A22 WDR73 ATP6V1E1 OTX2 OFD1 GABRA5 DPAGT1 KCNJ10 CNTN2 PSAP ABCC8 MTOR NUP133 SPINK5 PLPBP CENPJ CYP2R1 POMT2 HPRT1 TXN2 IFIH1 NDUFS7 HYLS1 PRKCD SETD2 PIGG AARS1 NDE1 SCN1B ABCC9 SCN1B FCGR2A ATP1A2 LAGE3 GNAS RELN TBL1XR1 CTH TRAPPC11 FEZF1 PLAA ZNF81 NOS3 PHACTR1 RD3 EFHC1 HACE1 GLE1 HEPACAM TMEM231 MPLKIP PDX1 KLHL15 CPT2 STS GPHN EFHC1 FOXG1 EFHC1 NLGN4X SUOX KCNJ11 ARX MYO5A COG7 STXBP1 LARGE1 KIF11 IFT140 IL12A-AS1 CNKSR2 ARID1B SLC6A19 FOXH1 STAG1 SCN1A RELA MLX PNPLA8 SLC1A2 PWAR1 PCCB GMPPB ECHS1 ADAM22 CPLX1 TDP1 CASR UGT1A1 THPO ATP6V1B2 SMC1A STAT3 RAB39B FGF8 GRIN2B BMP2 TRNT1 DBH EPM2A SCN9A ALG2 TRNK DYRK1A UFM1 BRAF FKTN TRNK SOX11 PET100 KLRC4 SLC17A5 ATP5F1A TRIP13 NDUFAF2 ZSWIM6 PIEZO2 GUF1 CRB2 PEX6 KIF1A ACVRL1 TELO2 KIF1A EML1 HSD17B10 WDR26 PRNP KCNB1 FADD FADD SNIP1 DENND5A SHANK3 SCO2 NDUFS2 PLK4 SLC25A22 CLIP1 SMARCA2 PSEN2 TMTC3 MRAP SPG11 USP7 MGP TLR3 TSEN2 CAMK2A GCM2 FLI1 NF1 GYS2 GPC4 LIPT2 GJC2 ANK3 GAS1 TMEM70 ALDH5A1 FASLG COX3 ASL STRADA MTHFR CNKSR2 UNC80 MCTP2 AP3D1 PEX1 COQ4 PIGN LARS1 EMG1 ARVCF FBXO31 MED25 MID2 CKAP2L PRUNE1 NFKB2 INPP5E TGIF1 KRAS IQSEC2 SKI COL4A1 SZT2 SDHC RBPJ AAAS MED13 FOXRED1 CCM2 GALC KCTD7 CISD2 TRNQ AQP2 EXT2 PODXL DHX30 RNASEH2B IL1RAPL1 GBA GMPPB TBP NRAS PTCH1 HERC1 AHI1 QDPR MAF COQ9 PNKP SMC1A PEX1 AVPR2 PEX16 KPTN SLC2A1 SPTBN4 STAG1 FGF12 SLC19A3 TBC1D23 CCND2 VLDLR STAR PRODH PEX5 RBM10 PEX19 PSMD12 SDHAF1 GABRG2 LCA5 XPR1 GJA1 MYRF PRRT2 SNAP25 TSC1 MID2 MEIS2 NDUFAF3 DPM1 MCCC1 FOXP1 SOX10 IQSEC2 ACOX1 NDUFS8 ACTA2 FGFR1 ATP7A GRIA3 TXN2 KCNA1 KCNMA1 SZT2 PEX6 XK OPHN1 GDI1 FBLN1 JMJD1C MECP2 INSR ST3GAL5 TCF20 GRIA3 ZBTB18 TMEM70 ZBTB18 AARS1 WDR62 CEP120 IVD TMLHE TBC1D20 TRNS2 PEX5 OSGEP AUTS2 UCP2 PPOX PSAP AP3B2 SMS EPM2A YWHAG NAA10 CHD2 IDS SMARCB1 COL1A2 ND5 PRODH NFIA TRNH ECM1 MSX2 SLC19A3 BUB1B EPG5 EHMT1 CDH11 SOX4 GABRD POMT2 ELP1 KCNMA1 CARS2 TRNS2 RAB39B ASPA MVK ARHGEF9 MFF NDP SCN2A LMNB2 ARID1A CSNK2A1 TBC1D24 SETD5 POLR3A CPT2 PYCR2 PCDH19 TRNW TBX1 TUSC3 B4GAT1 CCBE1 KCNJ6 CPT1A PPP1R15B GBA AIMP1 NDUFA2 TUBB2B POMC ALG6 ALDH3A2 PIGS DHDDS TMEM67 CLCN4 DDX3X TRPM6 AHDC1 CPOX EDC3 GMPPA NIPA1 GBA NGLY1 GNAQ SEC24C NEUROD2 NSUN2 MAGEL2 MECP2 ATP6 FGFR2 FTO HCN1 SLC2A1 SYT2 NDUFA9 SPRY4 HADHB SLC25A12 MAP2K1 PRMT7 SLC25A4 SYNGAP1 PGAP2 ADGRG1 ACADM LRAT SMARCC2 PAX2 SHANK3 TRMT1 CTSD VAMP1 TMEM237 SMARCC2 FGFR1 PEX19 SLC25A13 CTNNA2 CPS1 SHROOM4 ZBTB20 TGFBR3 POLR3A ASPA RORB UPF3B PARS2 NIN SMG9 TRNQ HERC1 SURF1 DPAGT1 LHX1 ARV1 SETBP1 ATP6V1A CLCF1 CDON EFHC1 PLEKHG2 NIPBL INPP5K NF2 GTF2H5 GMPPB RRM2B KIFBP HADH PEX26 COQ2 GNS PHGDH CACNA1H KCNC1 NPHP1 PEX5 ACVRL1 TUBG1 SMARCA2 BSCL2 INTS1 ACTL6B SLC6A1 PLCB1 IL17RD SCN2A ADNP LONP1 SAMHD1 PEX26 NOS1AP NPAP1 CALM1 GRIN1 SNX14 TRIP13 CRBN CNOT1 HTT TP53RK CDK5 P4HTM VARS2 EIF2S3 FAM149B1 SMC3 B9D2 GTF2E2 CLN8 ACOX1 ALDH18A1 GCSH CASK LINGO1 IDH2 XPNPEP3 MDH2 NECAP1 AIMP2 CSTB AP4S1 FARSB NPC2 FRA16E RERE NRXN1 GPAA1 TMEM67 CLN8 TAF1 TRNV CHD8 ATP6 KIF5C CYP27A1 PCLO FARS2 CYB5A NEK9 MECP2 PEX13 POMGNT1 UGDH UBAC2 PAK1 DCX POLG AKAP9 TSEN54 SARS1 PRMT7 UBE2A SSR4 GLUD1 FKRP RPS6KA3 CHN1 EXOSC3 CC2D1A PDGFB KMT2C ATP6AP1 CEP120 UBE3A TLR3 PEX26 SMARCA4 NDP SLC45A1 KCNJ6 ST3GAL3 EIF2B2 MOCS1 GOSR2 NDUFB11 TRNK PEX2 HLA-DPA1 AP3B2 TLR4 TCF4 EZR PSAT1 TRAPPC9 SHROOM4 RMND1 KATNB1 STXBP1 NUS1 GPAA1 MAF ADNP MKRN3-AS1 AASS TANGO2 SPATA7 TRNL1 TBC1D24 GRIN2A PEX3 DNM1 ATP6V1A TUBB2B GRIN2D PEX14 FAM149B1 GDF6 CLCN4 SC5D ACADS COX2 PANK2 SDHA GRIK2 MVK FLI1 LAS1L GDF2 GNAS IMPDH1 DEGS1 FLNA PTEN NUP214 GM2A STXBP1 ALDH5A1 DNASE1L3 THOC2 UNC80 FKRP FGFR3 IL10 FLNA RORA ISG15 PEX6 SPR SHH COG5 COL4A1 PTCH1 D2HGDH SH2B1 BRAF CYP26C1 CDC42 BCL10 NHLRC1 SOX10 CLN8 TSEN54 VPS13A ARV1 STT3A ASAH1 ATAD3A COX15 AGTR2 CEP290 PHACTR1 VPS13B VLDLR LAMC3 HERC2 GLI2 CACNA1D PTPN22 TWNK TRDN TRNW MKRN3 ARCN1 ARX GLRX5 GABRB3 SCYL2 CLTCL1 SYN1 PROK2 NEXMIF SLC12A3 PHF21A CYP27A1 TUBGCP6 ARNT2 ABCA2 HNRNPU DLG3 NDUFS4 GFM1 GABRB2 HNMT GUCY1A1 DNAJC19 PAK3 SIK1 DAG1 WASHC4 NAXE OTX2 SIK3 MSX2 SDHB AHSG TMEM216 CACNA1B PEX14 MPDU1 YEATS2 RBM8A PEX3 SCN4B FA2H DEAF1 ND2 ARHGDIA GABRB3 TRNS1 GATA3 AIP SEMA3A GP9 LYST IQSEC2 DYNC1H1 CHMP2B CDH23 WWOX SUFU LHX4 TECR HYMAI SMAD4 MAN1B1 PHOX2B MAPK10 ECM1 KDM6A PLA2G6 PGAP3 SPATA5 MKS1 ACTB POLA1 ALG13 AP1S2 CD96 CIT
Protein Mutations 1
A147T
SNP 5
rs1024611 rs1360780 rs222797 rs2297201 rs2298771
HP:0100022: Abnormality of movement
Genes 3183
TWIST1 GLRA1 MICOS13 CLN6 ELP1 KCNAB2 TSFM DMXL2 RNASEH2C EPCAM NF1 ATP1A3 MAG ADCY6 PLPBP GABRG2 TBP NDUFS7 CHMP1A CACNA1G GNA11 RDH12 SNCA RAB3GAP2 CCR1 ATP8 PRRT2 NEB AUH GABRD NR4A2 IREB2 ANOS1 B9D1 TTPA GBA CDK6 PNPLA6 MMP13 ATP6AP2 COQ2 TOR1A SLC7A14 PIEZO2 MARCHF6 PHYH SLX4 PRRT2 MECP2 KCNC3 POMGNT1 CHRNG GYG1 SARDH MAG TREX1 AFF2 NALCN DYSF VPS13C GABRG2 KDM6B ANO3 IGHMBP2 FBXO11 RAI1 RFC1 FLRT3 HDC ORAI1 SLC9A1 CILK1 MAPT TOE1 PHC1 JAM2 USP8 SDHA EBP CHCHD2 ATXN8OS NEXMIF MICU1 EEF1A2 TUBB4A MYH14 TIA1 UFD1 LETM1 DDC HTRA1 SNORD115-1 ZFYVE26 HNRNPA2B1 HACE1 RARS1 SDHD MECP2 TTC19 ALS2 SGCA CHRNG SPG11 MTR PPP2R5D DCC PEX2 POU3F4 AIFM1 CLTC EXTL3 DEAF1 CC2D1A DRD3 CACNB4 RFC1 PEX12 ERCC3 TSEN54 FRRS1L UBA5 ATP13A2 NOP56 C8ORF37 NEK1 PDHX CEP41 IQSEC2 RETREG1 DNAJC5 CERKL PGAP1 STAG2 MSH6 CEP126 CREBBP OTUD6B POLG UGP2 PMP22 DNAJC21 PARS2 ACADM FAT2 MYH2 CAPN3 ND6 CIC GALC NSD2 TRAPPC12 GARS1 PEX2 ASPA HMGCL APP ATXN7 FKTN CHAMP1 HINT1 PRPF4 KCNA1 PEX13 TTC8 SNCA SMN1 NKX2-1 MTFMT NAA10 FA2H PPP2R1A BRAT1 PIGT KCNA1 NDUFAF3 NOG MME PRRT2 GDAP2 HGSNAT MAPT BCL11B MMUT QARS1 ATP6AP2 TRNF MTRR FLVCR1 PEX10 WASHC5 RP1 CWF19L1 SCN1B PAH ASAH1 AIFM1 CCN6 GMPPB DNM1 NSDHL KARS1 ACTA1 GRM1 RTTN STXBP1 CHD1 CHMP2B DHTKD1 GDAP1 MAPK8IP3 MCPH1 BEAN1 UBTF GUCA1B CDK5RAP2 NAT8L ERLIN2 FUS MYOT VAMP2 PLA2G6 DYM MED12 PPP2R2B COLEC11 MYF6 PEX13 PDE6B PEX11B AP4M1 TSC2 GARS1 SCN2A ABCD1 NAGA HAL TRIM2 PIGP TRMT10A CACNA1A TONSL UBA5 MYL1 NAGLU POMGNT1 KIF5A CNTNAP1 TPI1 MMACHC ATXN8 NEU1 FCSK DDHD1 ERCC5 LIFR MYH7 PEX2 TWNK ASPM KYNU SETX EIF2B5 RYR1 FLNC VPS35 GJB1 TOE1 ATXN3 TRAF7 C12ORF4 GMPPB ZDHHC9 PIK3CA EPRS1 MYOT ATP1A3 CPT1C RNF170 GLYCTK BSCL2 PDK3 TACO1 PINK1 TET3 ATN1 SLC6A8 KIAA0586 RRM2B B4GALNT1 MAPT GBA ERCC6 INPP5E ALG3 BMPR1A ERCC3 VCP VWA3B EPG5 RTEL1 SLC25A22 CACNA1A MECR FMN2 PRICKLE1 APC TRNP POLG WDR26 BRAT1 BRAF FMR1 PTS APP ND2 STAT4 AP4S1 MMADHC YEATS2 TPM2 SNAP29 ALS2 KIF1C ALS2 RAD51C ACSF3 MPZ ERBB4 TNIK PRNP TRNL1 TBX1 SLC25A15 CNTNAP2 LMNA HPCA DPH1 OFD1 CYP27B1 OTUD6B HIKESHI KCNA4 MECP2 ATXN2 DCTN1 DDOST PRPS1 ND4 FAM161A MGAT2 VCP TMEM106B VCP SNRPN TBC1D24 FRRS1L SQSTM1 FOXRED1 CDK10 SCN1A POLG GALT MERTK NDUFA13 DNAL4 UPB1 TRNV PSAP C12ORF65 PDE10A AHI1 MAOA TMX2 IARS2 CUL4B SYNJ1 C12ORF65 TDP1 PDE8B SCN3A AMT SLC6A3 MCCC2 GTF2E2 SLC34A3 OXR1 PPM1D SMS LIMK1 MARS2 SUCLA2 EIF2B4 MMP13 NARS2 NTN1 TREM2 KLHL9 NOTCH3 DNM2 NUS1 NUBPL ELN NDUFS8 AARS2 DRD5 LMNA GABRG2 GBE1 RRM2B ATP6 GNAQ SYNE2 KMT2B PDP1 TTBK2 CDKL5 DNM2 ELP2 CHRNA7 CEP135 XPC HSPB3 DMD AP4E1 SHOC2 HMGA2 ALG14 POLG TRNQ POLR1D COX3 COQ2 IL1RAPL1 GABRA2 HK1 KMT2A ADCY5 KDM5C MTOR ELOVL5 ELOVL5 UFC1 FKRP NRAS COL6A3 GP1BB VCP COL6A1 TRPV4 COL2A1 UQCC2 STS LAMA2 APTX DYNC1H1 LRPPRC TRAPPC6B ASPM SLC18A3 DST TBP GRM1 TBC1D24 CCDC141 CPLANE1 CCDC141 CNTNAP1 STAMBP LEMD3 PRRT2 CLN3 TRNS1 LMNA TECPR2 DKK1 PEX6 MED12 C9ORF72 CACNA1A TMEM237 MAPT RNR1 SEPTIN9 IL12A ATP2B3 KCNQ2 MMAA KIZ MOCS2 IDUA GABRB2 ADA2 TMEM43 SDHA ATXN2 VAPB CACNB4 ISCA2 AR TPM2 COL12A1 ARX WNK1 SUCLG1 ENPP1 MTM1 VDR GUF1 MGME1 CNTN1 CDKL5 CHKB ANO10 BRCA2 SOD1 NELFA RXYLT1 CSTB COX1 RAB11B RPGRIP1L RSRC1 PROM1 JPH3 ARSI LRP4 RYR1 RYR1 DPM1 ND6 CNNM2 TOR1A TARS1 ZNF711 SASS6 PEX10 ELN SYNGAP1 STX16 PRNP PLP1 CA4 GDI1 WDR45 GPT2 PCARE ABCC6 COX2 RET ADAR GNAL USP9X KCND3 HDAC4 MPZ PCBD1 MGME1 VCP TRPV4 SNORD118 SLC2A1 PYCR2 CPLANE1 PMP2 SAR1B PEX2 ASAH1 SCN2A TOR1A SATB2 TECPR2 ATP1A2 MFSD2A DEAF1 DNAJC3 LIFR RRM2B ACO2 NALCN NDUFAF6 PTCHD1 SLC46A1 NUP62 ATXN3 FGFR1 CRADD FTSJ1 TRNP LINS1 SLC29A3 LMOD3 ARX COG8 TOPORS WDR11 PMP22 CYP2R1 PANK2 ND4 HTT SCN9A CSPP1 FLNC CXORF56 KLHL41 AUTS2 AUH SEMA3E SERPINI1 CPLX1 RAD51 CHD7 CC2D2A SGCE DNM2 GPR101 CHRND ATRX FANCG FUZ ZNF469 NEB MYOT KATNIP ITGA2B PTRH2 RARS1 COQ2 HTRA1 TAZ NDUFAF5 LETM1 TTN FANCI SLC13A5 PIGC GABBR2 APC2 STARD7 PIGA ATCAY SLC39A13 POLR3A MORC2 TTBK2 SPG21 PNPLA2 PMPCB ATN1 CCT5 CRPPA COX6A1 EBP ERCC5 ASXL3 PARK7 HUWE1 SNX10 TREM2 DPYS ATL1 MYO5A MECP2 REPS1 SLC19A3 IER3IP1 DYM CTNND2 MPZ RIC1 FAN1 PUM1 VPS33A NSUN2 CUL4B MBD5 DYSF CCDC88A TICAM1 RPE65 TTR DNM1 INPP5E EMD LIPT1 CACNA1S WDR62 PPP1R15B PIGT PNPO ATP7B PGAP1 SRPX2 ATAD1 OPHN1 PMPCA PIEZO2 CACNA1A POGZ AP4M1 VCP PNKD RNF168 RP9 PTF1A PCDH12 ATP13A2 ADGRG1 COL6A3 NEFH CACNA1A EHMT1 PDK3 KIF1A MYPN TGM6 PQBP1 BEAN1 FOXG1 HEXB GRIA4 ALPL VAMP1 SRP54 C19ORF12 TMEM127 POMK IDH1 KRAS SPTBN2 GOT2 CTDP1 COL6A1 NDUFS3 FBXL4 LITAF ARL6IP1 PRPH2 TRIO GUCY2D ERMARD ATP6AP2 SEMA4A SYT2 LMNB1 DPM2 MAX TULP1 SNRNP200 PSEN1 FHL1 VCP GBA2 SCN9A MTTP STUB1 FKTN ACTA1 GMPPA SPG11 ND5 HSPB8 CAMTA1 PRNP CHD7 WWOX ZNF142 HPGD MAPT SCN1A RAB39B TKT ARF1 UBA5 USP9X TPM3 SLC25A42 BSND ERLIN2 WDR73 PGM3 TUBA8 GNB1 PDGFRB SGCD CAMTA1 GLB1 CLCN4 LMAN2L NEB TSC2 NEK9 NKX6-2 PMP22 GNB4 ERLIN1 TOMM40 GBA FHL1 REEP2 RUBCN REEP6 SCN8A KIAA1549 TCF4 OTOG MEFV CD59 OGDH SACS BRIP1 MED25 SLC2A1 ATM PEX1 DNA2 DHDDS DHPS ND4 MLH3 LGI4 ATP2B3 EXT1 ALDH7A1 KCNQ3 TWNK COLQ WDR45 ABAT GJA1 SDHB EGF RNF113A RAI1 DLD CKAP2L PEX12 PCCA STUB1 CUX2 TRAPPC12 C12ORF4 YWHAG RAD21 CAPN3 ERCC2 BEST1 PURA CYTB TPM2 RPS6KA3 EXOSC9 LRP12 VRK1 MME PEX12 SLC39A14 TRAPPC9 GEMIN4 TCTN1 TBR1 ARHGEF2 SLC18A3 KISS1R LRAT TPP1 MED23 GMPPB OFD1 OPA1 UGT1A1 NTNG1 ABHD12 ALKBH8 LDB3 LRP5 OCRL ARL13B FAM126A SCN1B KCNB1 GNE PMM2 CEP104 UBQLN2 ARL6 GTF2IRD1 SDHD FANCB CDHR1 NF2 NPC1 MRE11 CNGA1 TRIO AGRN CLN5 POLG SMO NF2 SELENOI ACTA1 MACF1 GPHN DPF2 SCN1A POMGNT1 NEK2 CTBP1 SLC25A19 CYP2U1 MAK GALC BBS2 COMT SQSTM1 PEX5 DPM3 GP1BA SIL1 DNMT1 ZFYVE26 PIK3R5 ERAP1 TRMT5 MCM3AP SOX5 TAF2 TSHR TBCK DKK1 GCK NKX6-2 PMS1 RAC1 MAN1B1 KIF14 MDH2 GSN POLG EEF2 TRIO LMNB1 FKRP GATA4 HSPB8 C11ORF95 NDUFA10 BCS1L SCN9A KCNC3 NTRK2 TUB ERCC6 RFXANK EIF2B1 MYPN SLC9A7 RPS20 KMT2A AGA FGF12 CCDC88C TIMM8A PAH ABCC8 ND2 FBLN5 SCN1B EIF4G1 KCNA2 MMADHC OPA3 HDAC8 MTO1 TRIT1 DCTN1 DHCR7 KLHL41 SNAP29 GLUL AIFM1 TCTN3 PEX16 POLG REEP1 PGAP3 NDUFA13 GRIN1 SLCO2A1 KCNT1 SYNE1 ERCC1 SLC18A2 NEUROD2 POMGNT2 SNCA COX3 HARS1 ARSA PIK3CA CLCN2 MFN2 PDE10A ND1 SLC6A19 SLC45A1 SBF1 JPH3 SLC39A8 COL12A1 PIGG GABBR2 SLC2A1 RSPRY1 BCORL1 DCPS PSAP FKTN FIG4 NKAP LRRK2 SLC12A6 GBA ADAR GJB2 UBE3A HMGCL POLR3B TAT TGFBR2 AFG3L2 DAB1 SIK1 EED PEX6 MECP2 FXN MFSD2A SMPD1 COL6A2 KCNQ2 SPR SDHAF1 IKBKG POMT1 BIN1 GLDC VPS37A CEP63 WDR48 POLG2 WDR45 TRNS2 NDUFS4 CAPN1 AP1S2 SIN3A CYP7B1 BICD2 SYNJ1 TLK2 ARX POMT1 UBTF CACNA1G TYROBP REEP1 GRIK2 PMP22 TNIK CEP41 NONO RGR PTEN CHCHD10 MEN1 TPM3 TACR3 UROC1 CHST3 SPEG SLC30A10 COL2A1 GRIN2A ATM SURF1 CHRNB1 LMOD3 MPZ KLHL7 MPV17 TIMM50 KCNQ3 NDUFS3 SLC52A2 KLHL40 SMC1A ALG13 PUF60 TSEN15 SMARCB1 EGR2 SPART SQSTM1 PGM3 DUSP6 CACNA1A ERCC2 PDHA1 RUBCN TBC1D24 DHH CD28 COL9A2 POC1A CHRND TBK1 FRMPD4 PNKP NDST1 DOCK7 ABCA7 POMT1 CHAT ELOVL4 LARGE1 PPP2R2B TRNK PHIP GABRD POMT2 GRIN2B SMN1 COG4 IGHMBP2 MARS1 ATRX KCNA1 GABRA5 PARN ATXN1 C12ORF65 PLP1 PLPBP TXN2 IFIH1 COL6A3 NDUFS7 HYLS1 SETD2 KCND3 PIGG AARS1 NDE1 TGFB1 SCN1B ATP1A2 GNAS CTH TRAPPC11 PRNP PLAA CRB1 ZNF81 SETX HACE1 DYNC1H1 POMK FBN1 EFHC1 NLGN4X COG7 GCH1 LRSAM1 CNKSR2 SLC6A19 SLC1A2 PWAR1 SYT14 GMPPB ECHS1 TDP1 UGT1A1 PNP PRPH FGF8 GRIN2B LRP4 MPZ EPM2A PNPT1 PRDM5 CP DBH PMP22 GNB5 VAPB RYR1 KLRC4 NDUFAF2 PIEZO2 GUF1 KIF1A WARS1 HSD17B10 WDR26 PRNP DAG1 GMPPB MCOLN1 HPRT1 DENND5A SHANK3 FGD1 TSEN2 GBE1 CAMK2A ATCAY GJC2 L1CAM ANK3 DES MCTP2 PIGN GFM2 PRUNE1 INPP5E ATXN1 MAPT KRAS RYR1 SKI RBP3 LAMP2 ZNF513 MED13 FOXRED1 GALC KCTD7 ITPR1 EXT2 DHX30 CLCN7 SYNE1 MMP13 UBE2T HERC1 PRPS1 AHI1 SLC25A4 TFG COQ9 COMP SMC1A PEX1 KPTN CHCHD10 SPTBN4 ALG14 FGF12 SLC19A3 HSPB1 SGCE NAGLU VLDLR CP MED25 TFG RBM10 RFC2 SDHAF1 MCCC1 NOL3 SNAP25 MYORG BSCL2 MCCC1 ACAN PLEKHG5 ANOS1 ORAI1 GRIA3 TXN2 KCNA1 XK LYRM7 OPHN1 DDHD2 MECP2 TMEM70 AARS1 TRNL2 FKTN GFER TTI2 PEX5 MAFB NLGN3 EPM2A SMARCB1 ND5 PRODH ITPR1 CXORF56 TIMM8A DYM ITPR1 HSPD1 GABRD POMT2 ELP1 CARS2 RAB39B ASPA CYP2U1 SMPD1 MFF ATP6 PNKP SLC25A1 LTBP4 DDRGK1 POLR3A ATP1A3 MTPAP PCDH19 NR2E3 B4GAT1 HPCA PPP1R15B CCDC88C AIMP1 FGF14 ALDH3A2 ASCC1 PIGS DHDDS CLCN4 PDE4D ADCY5 NT5C2 EDC3 GMPPA NIPA1 NEUROD2 PDSS1 DNAJC3 MAGEL2 HCN1 SYT2 NDUFA9 SPRY4 GJB1 LAMB2 POMT1 AFG3L2 PGAP2 ND6 SLITRK1 SMARCC2 MTMR14 TNFRSF1B NUP88 FANCE ATP13A2 VAMP1 AARS1 SCN4A DDHD1 PDGFB RFWD3 CTNNA2 LHCGR SHROOM4 ZBTB20 POLR3A TGFB2 C19ORF12 UPF3B TRNQ SURF1 ATP6V1A WIPI2 EFHC1 INPP5K CHRNB1 CHD4 MATR3 COQ2 GNS CACNA1H NPHP1 COMP BSCL2 ATP8A2 ATXN3 SPEG FH PLCB1 ADNP SAMHD1 PEX26 ADCY6 GRIN1 CA8 CRBN CDK5 P4HTM EIF2S3 GGT1 SGCD GTF2E2 ACOX1 AGTPBP1 FAM126A GCSH CASK CIZ1 XPNPEP3 MDH2 RFXAP AP4S1 PRKAR1A LARGE1 MLXIPL CAPN1 RNASEH1 PCLO FARS2 PEX12 POMGNT1 UBAC2 PAK1 MYH7 PRKRA MECP2 FN1 PCNA YME1L1 GLUD1 FKRP NAA10 CHN1 VHL UBE3A PEX26 KCNJ6 SAG MOCS1 TLR4 PANK2 EZR PSAT1 RMND1 KATNB1 STXBP1 NUS1 GPAA1 RAPSN PSEN1 MSTO1 PANK2 TRNL1 TBC1D24 GRIN2A PEX3 MATR3 DNM1 GRIN2D MPZ PEX14 EIF4G1 SDHA FGD4 GRIK2 SCARB2 DEGS1 PAM16 DHX38 NUP214 GM2A STXBP1 KBTBD13 UNC80 PYCR2 IL10 METTL5 SPR COG5 ND1 FOXP1 COL4A1 PTCH1 DNAJC21 TBK1 TTI2 VPS13A ARV1 ASAH1 COX15 AGTR2 SLC6A3 PHACTR1 VLDLR CACNA1D MPZ ADAR LAMA1 TRNW ARCN1 ATXN8 SCYL2 TH CPLANE1 APTX DLG3 NKX2-1 NDUFS4 ITGB3 KIF1B PDE4D HNMT DNAJC19 SHANK3 ROM1 SIK1 DAG1 WASHC4 TBL2 OPA3 CACNA1B OPA1 PEX3 FA2H TUBGCP2 DEAF1 GDAP1 MAP11 KNL1 TMEM240 DYNC1H1 LINS1 VCP TFG GRID2 IMPG2 TECR COL9A3 FLVCR1 MAPK10 ZMPSTE24 RFX5 GLB1 COL9A2 SPATA5 VHL FXR1 PEX1 CIT WDR81 SMARCAL1 CTBP1 SLC1A4 THOC2 PRRT2 FKRP SAMD12 XPA TIA1 RAB3GAP1 LGI4 NEFL ERCC3 CLP1 STIL UPF3B CC2D2A PINK1 ECHS1 CRAT COASY NLGN3 SLC2A1 WASHC5 UCHL1 CHD2 EGR2 SLC52A3 SCN8A NSD1 FGFR3 PUS7 SCN8A ARHGEF6 KMT2A TERT WWOX PDGFB LAMA2 TMEM43 HSD17B10 VPS13A KIF1A NUP62 SIGMAR1 KCNK4 ARX DNMT1 GAN NDUFAF6 NT5C2 ZC3H14 MRPS16 TRNT XRCC4 CAMK2B HSPB1 GNAS GPR88 REEP1 TCTN2 MYH7 DHFR SELENON ALDH18A1 ND4 HGSNAT SERAC1 DDX3X ARL3 ATRX SCARB2 ARSA SQSTM1 PLP1 ATP5F1D GLA FA2H LYST MTPAP NDUFV1 DDHD2 WDR45B DOCK3 COA7 SLC25A11 ARSA SALL4 DGUOK ADSS1 NHLRC1 MAGEL2 CLPB COL6A3 KIAA0586 CTC1 SLC2A3 TWNK TARDBP RAC1 DNMT1 NDUFS2 SH2B1 SPTAN1 PLA2G6 DLST SLC9A6 NTRK2 LRRK2 ATP7B EP300 ALG13 BAP1 B3GALNT2 KIF14 SPG7 ITPA SIN3A CACNA2D2 GABRA1 HESX1 FKTN FUS KLC2 PIGP ZFYVE27 CRPPA DOK7 FGFR2 C19ORF12 IL23R ATP6 NCAPD3 PEX5 ERLIN2 DMPK TTPA GNAO1 ADAR BCR MRPS34 IFIH1 CARS2 UQCRQ TPK1 OPA3 SLC25A1 ACAT2 IQSEC1 FKTN CRPPA MAST1 RAB39B UNC93B1 DNAJB6 RRM2B DNMT3A RAB18 ND4L MAD2L2 DCC MED12 ERCC4 PPP2R1A SPART SLC2A1 TRNL1 POMT1 TANGO2 PRDX1 KCNMA1 SLC18A3 SPG7 CHRND HECW2 RYR1 USP7 HUWE1 ARX PIGN ST3GAL3 RPL10 NIPA1 SCN2A FTL KCNA2 TCF4 HIVEP2 ACTA1 CYB5R3 MAT1A THRB TTN GFPT1 GJB1 ERCC4 ARHGEF18 NR2F1 RTN2 FBXO38 MED12 PALB2 FGF14 ANO5 PDE6D ITPR1 ERLIN1 ASNS PRDM5 SH3TC2 EIF2B3 CHCHD10 SC5D SDHB STRADA GBA2 DMD PRICKLE1 PMS2 COL6A2 TGFB3 TRNF RPS6KA3 PDE6G CCDC28B QRICH1 SYNJ1 ATXN8OS ISCA1 GCDH TUBB3 PRDM16 B4GALNT1 MANBA TBCK IBA57 SPG11 SLC9A6 DCAF8 RREB1 CAD SELENON THAP1 TSHR PODXL LBR PAH XRCC1 PC TMCO1 VAMP1 HTRA2 PEX19 PEX1 ITGA2 SPATA7 GABRA1 GLRB IGF1 MAN2B1 PPT1 RAD51 COQ8A COL4A1 COL12A1 VPS37A KCNMA1 PSMD12 CNKSR2 PDYN COX10 FBXO7 ADAT3 SEMA4A CYFIP2 GRM1 PIK3CA TBC1D24 CCBE1 PRDM8 TRAF3 CACNA1A SAMD9L DCC MKS1 TRAPPC2L PCYT2 EARS2 CWF19L1 COL12A1 TBX4 GP1BB RHOBTB2 CHRNA1 ERCC1 SIGMAR1 MAP11 ENTPD1 RAD51 TTN PTCHD1 ACSL4 CERT1 SLC16A2 CEP152 PEX11B BSCL2 PCNT EYS ADAT3 LIG4 IDUA HARS1 VAMP1 KLC2 POLR3B EXT2 SLC2A1 TRNN TBK1 NDUFV2 CRKL COL6A3 CACNA1E RTTN SLC33A1 TMEM106B PIGO TCOF1 DKC1 DOK7 KY RLIM PIGL ACTB TPM3 PAK3 IBA57 CERS1 STXBP1 TUBB4A DYSF TMEM67 SETX USH2A MLH1 RP2 RPGRIP1L SETD5 MYL2 IFT172 GFPT1 TKT PRPS1 SACS COL6A3 HTRA2 RPE65 PRNP CNTNAP2 SLC20A2 KDM5C FLRT1 ACY1 SLC6A17 PIGW DMD PMP22 CANT1 CHRNA2 CACNA1A MTFMT COPB2 RNU12 RNASEH2A ANO3 POLR1C KCNA1 ARL6IP1 SMARCE1 CACNA1D RAI1 GM2A APOB HSPG2 MAB21L1 RNASET2 DNAJB2 GDAP1 GBE1 SLC30A9 EFL1 SNX14 PIGY NDUFS1 CFL2 LIPT1 HTT PSAP ND1 LPIN1 SURF1 PRPF6 CDKL5 DRD2 PMP22 SLC6A9 ARL6 SPTAN1 TPP1 NADK2 GSS GABRB3 ATR ADGRV1 TH CLIC2 TSC1 FGFRL1 BICD2 DPYD ALDH18A1 TBX1 CHST3 C19ORF12 SYNJ1 JRK ADD3 ZNF408 KCTD17 TRAK1 PPP3CA AIFM1 KANSL1 KNL1 ERCC8 SLC5A7 PHGDH HRAS MORC2 TRIP12 SLC33A1 NDUFS2 CYP27B1 ATXN3 RARS2 SYNE1 SCN4A TBCD HK1 COL13A1 ZC4H2 SFXN4 GCH1 PABPN1 UBAP1 WWOX MYF5 DNAJC6 MATN3 NTNG2 FMR1 NADK2 RPGRIP1L MBOAT7 RERE CRPPA NDN MAPK1 MBOAT7 GBA CNGB1 AR HNRNPH2 TRNS1 COL13A1 GAMT TAF1 MICU1 IFT140 PUS3 TSPAN7 SLC18A2 TSPYL1 RAI1 PRNP PLEC DCAF17 GLRX5 FARS2 PFN1 DPP6 ASXL3 HNRNPDL TWNK ARSA TRNH NAGS PIGV ALS2 DARS2 MYO9A PEX14 GPT2 AP5Z1 ERCC4 DMXL2 INPP5K SLC6A5 MAPT FAR1 TPP1 GTPBP2 ACTA1 PDE10A CRYAB GRN ZNHIT3 STN1 GCDH NSDHL NDUFAF5 NDUFA12 NSD2 BVES FRMPD4 LMNA LNPK NECAP1 SCN4A KCNQ5 POMK SLC25A15 INF2 STIM1 SLC25A46 PRSS12 ABCA4 SCYL1 AP4B1 CNTN2 STXBP1 SYT1 TBX1 MFN2 SLC39A14 CLP1 NSUN2 TRPC3 SLC12A5 DNM1L TYMP NDRG1 ASH1L ST3GAL3 BRCA1 LMNA EMC1 WDR81 IMPDH1 PCDH19 SLC35A1 GAA PTS KCNA2 FLVCR2 PRCD COX15 PDE8B ATP8A2 TCTN2 SCN8A OCLN FBXO7 DEAF1 FGF17 NTRK1 RNASEH2C TRPC3 CDKL5 TTN NSD1 ERCC2 CIITA AP1S2 DNAJC12 TTN GPHN HPRT1 ATL1 PEX3 IPW AHR MTM1 FKRP OPA1 GBA TRIP4 ADCY5 ADRA2B HNRNPA1 ATP6V1A RANBP2 TRPV4 DHTKD1 ADH1C SURF1 CYTB ACTL6B HOXA2 ALG11 CSF1R BSCL2 EGR2 TREX1 TOP3A SLC39A4 HADHA COL2A1 EMC1 ABCA1 GNE MAPT BSCL2 ATP1A3 HSPG2 RFT1 MYPN NEB SCAPER GNAO1 CTDP1 WARS2 COL2A1 PEX10 HIBCH SDHC SIK1 FANCF NTRK2 PEX6 SLC2A1 PIK3R5 ITM2B LAMA2 SPRED1 TRNI PITX3 SH3KBP1 KAT6A MECP2 SGCB RAPSN VDR SUCLA2 YY1 DCPS RSRC1 KIF1B CDKL5 AIP CA8 RUSC2 GRIN2A MARS1 TWNK FGFR1 AP2M1 SCN4A GNE CYP7B1 ATP13A2 MAP3K20 PRKCG BIN1 TRPV4 GAD1 PREPL ACTA1 EPAS1 DOK7 AMPD2 ANO10 NOTCH2NLC KCNQ2 WAC HACD1 TRIM8 POMT2 PNPO HERC2 SLC46A1 SCO2 CYFIP2 ND4L FKRP VCP NDUFAF4 SYNE1 TYROBP CRYAB AIMP1 TWNK GNE TERT CSF1R SYT1 XPA SORL1 LMX1B ATXN2 GJC2 OCRL IDH3A USP27X PNPLA6 DHCR7 TK2 AMPD2 SPTBN2 COL12A1 RHO PSEN1 NDUFA1 NRXN1 TMEM237 KIF7 HCN1 KIAA0753 LARGE1 RLBP1 CHRNE ACER3 TSPYL1 HNF4A ARG1 TKFC POMT2 CTSF ATXN10 THRA KDM1A JRK TRAPPC9 IFIH1 NOP56 PLCB1 EBF3 SPG21 SDHA WDR4 PACS1 PLOD1 SPAST GDAP1 PPP3CA AP4E1 WHCR ELOVL4 METTL23 STX1B TREX1 DCTN1 DES KCTD17 IFT88 PRRT2 GLRA1 KIF1B DRD5 TRNE IFRD1 FKBP10 PRX FXN B3GALNT2 NBN PEX3 POMT2 PIGA PYROXD1 CD109 EIF2AK3 IDUA UROC1 SIK1 PRPF31 KBTBD13 KPTN KCNQ2 MRE11 CIT AGRN PDE6A TRNK ARID2 DNAJC6 LMNB2 FUCA1 GABRA3 NLGN4X MICOS13 SLC6A8 TRNS1 CHD2 FMR1 SGSH SLC13A5 COMP SPTBN2 NDUFV1 OSTM1 NEB NEFL CLTC ATRX ADSL BOLA3 SETBP1 SLC1A2 TRAK1 OPA3 TRIM32 MTRR RNASEH2A DNAL4 MCCC2 TUBA8 REEP2 TRPV4 NFIX TPM2 PROC MSH2 NKX2-1 ATP7A AK9 MEGF10 LMNA EEF1A2 ATP1A3 TNNT1 GIGYF2 AKT1 ARX TRNL1 DYNC1I2 ANK3 HIBCH SLC35A2 L2HGDH PIGQ CCN6 CHRND INPP5E GATAD2B UCHL1 COL6A1 TRNW PEX10 GABRG2 NDUFA12 MAPT CACNA1B AGBL5 KIF5A TIMM50 SEPSECS C4A CASK ALDH18A1 FLCN SLC39A8 SCN8A BCS1L FANCA DSTYK DMD WFS1 TRAPPC11 CUX2 PNKP VARS1 TSEN54 ALDH18A1 CHD3 SGCG TAF1 XRCC2 WNT3A TRAPPC11 BCAP31 ZSWIM6 DCAF17 FKRP ACTL6B SUFU OFD1 ATAD3A JPH1 TAF1 ACAT1 ND5 LARP7 LIAS FAS ACSL4 AP4B1 DYSF MYH3 DPM3 REEP1 GAMT PIGY SCN4A PSAP FANCM ETHE1 DHDDS NTRK2 TUBB4A ERCC6 TK2 HNF1A CORO1A GRIN2B SNCAIP PRKCG FHL1 PLD3 PRDM8 DGUOK ARMC9 KIF1A POMT1 PMP22 SNRPN CHMP2B CLIP2 ERCC2 GABRA1 PEX11B PLAA MAFB GJC2 PCGF2 NEU1 KDM5B HIRA PLA2G6 RNF125 CPLX1 ATN1 GNAO1 COL6A1 TRNF ZNF41 HSPB1 RERE DNAJC6 IRF2BPL TBC1D24 MAPT HLA-B SDHD EEF2 FLNC PROKR2 NAGA KCNK9 DDB2 FGD1 ERLIN2 PRKRA SYP GLRB NDUFS1 ADAMTS13 ND3 MPZ TGFB1 KIDINS220 FUS CCT5 SBF2 SOX10 ND6 POLA1 PWRN1 MED12 SIGMAR1 AR NOTCH3 PIBF1 LAMB2 PSAP SLC13A5 DNA2 NDUFA4 CRBN TPM3 EIF2S3 EYA1 PDHA1 LYST AP5Z1 NBN KDM5B ERBB3 DNM1L AMACR ADA2 DLAT PMM2 TRNL1 POLR3A GABBR2 PEX16 HSPD1 TRIM32 C9ORF72 COL6A2 SCN3A AMACR PSAP ATXN10 NDUFB8 PSEN1 SLC1A4 VHL NGLY1 KRAS SMN1 TRAPPC11 ERCC5 HINT1 PDE10A SMN1 CLCNKA ABCB6 COQ8A TBC1D24 RAI1 HCFC1 DMXL2 MEF2C IDH3B WASF1 MSTO1 ATP1A1 MEF2C VAC14 SDHD GALC WNT1 HS6ST1 PSAP ALDH18A1 CNPY3 ND1 GRID2 NAXD ATP1A1 NACC1 FKRP SPAST RAB7A PNPT1 FBN1 ADPRS ALG9 COASY OPA1 TCAP RNASEH2B MARCHF6 TMEM107 NFASC GNAS MUSK MARS2 SLC30A10 MED17 NHLRC2 TRMU RPGR MYH14 PLEKHG4 FANCD2 TCIRG1 AFG3L2 COL10A1 HCFC1 POLG PMP22 MFN2 GCH1 GBA2 HTRA2 TMEM240 TRPV4 BAZ1B COL9A1 THAP1 UBA1 CTLA4 HTT ACTA1 CLCNKB GDAP1 SCN9A L1CAM BCAP31 ACTB TSHR NONO COA8 GRN CLPB CASK ADSS1 TREM2 JAG1 BAP1 MMUT CDK8 SAR1B IFNG SCN4A TARDBP ATAD1 SLC6A1 MATN3 KIF15 GATAD2B RNF113A HSPD1 GNPTAB PSEN1 ZNHIT3 COL6A2 PIGL PRKAR1B MYH7 RETREG1 PRPS1 PIGV STXBP1 FMR1 TAF6 SQSTM1 COL2A1 AKT1 SCP2 AAAS KANK1 GBA PACS2 SPG11 ALG1 MBTPS1 C9ORF72 CASR FLII JAM3 CHRNA1 ATP6 CHP1 B3GALNT2 SNORD116-1 MYOD1 NSMF BBS1 FUS TNNT1 NDUFA9 NDUFS2 TSC1 ALDH6A1 TRIM37 FHL1 OPTN PDXK ATL1 CXCR4 ARL3 GDF6 LRAT PEX7 TBCD CFAP43 AFG3L2 SAMD12 NACC1 ATXN7 SUMF1 MUSK OFD1 DPAGT1 KCNJ10 CNTN2 POMGNT1 PSAP CYP2R1 POMT2 HPRT1 ZC4H2 ALS2 MCOLN1 PNPLA2 CPT1C POMT1 UBA1 FEZF1 BAG3 DSTYK SLC16A2 DRD4 GLE1 NKX2-1 DNAJC13 TENM4 TMEM231 MPLKIP STS GPHN FANCL ATXN8OS LAMP2 PLEKHG5 FOXG1 EFHC1 SUOX MYO5A STXBP1 PEX7 LARGE1 KIF11 IL12A-AS1 SCN1A RELA PNPLA8 VPS13C PCCB PDYN CPLX1 MED13L RAB39B MAPT SLC6A17 ALG2 TRNK DYRK1A UFM1 PCNA PET100 SLC17A5 LRRK2 TGM6 PEX6 TELO2 KIF1A EP300 SPTBN2 MPV17 GCLC MME TAF2 SNIP1 SCO2 NDUFS2 SLC25A22 CLIP1 PSEN2 CACNA1G MMP2 SPG11 POLG FLI1 LIPT2 COX3 CHRNE MTHFR DNAJB6 CNKSR2 SDHA KIF1A FTL UNC80 AP3D1 ARVCF FBXO31 MED25 CRX MID2 CKAP2L PNPLA6 KIF5A PRRT2 IQSEC2 PMP22 DMD COL4A1 TNFSF11 SZT2 ATL3 AAAS KY PODXL CACNB4 RNASEH2B IL1RAPL1 TBP QDPR STUB1 PNKP ND5 MATN3 SLC2A1 TBC1D23 VPS35 RET SLC52A2 PRSS12 PEX19 C12ORF65 SIL1 GABRG2 XPR1 GJA1 PRRT2 MID2 NDUFAF3 PRPF8 FOXP1 DPAGT1 SOX10 IQSEC2 RNASEH1 ACOX1 NDUFS8 ND5 PNKD PMPCA KCNMA1 SZT2 EMD PEX6 FBLN1 JMJD1C ST3GAL5 TCF20 VANGL1 GRIA3 WDR62 CEP120 SPG7 AUTS2 PSAP AP3B2 ENTPD1 SMS CENPJ YWHAG NRL PAX1 POLR1C SBDS TRNH ECM1 SDHB SLC19A3 ACD TIA1 ALG2 ITPR1 COMP TRNS2 MTMR14 ATP7A DNM2 SCN2A RMRP CSNK2A1 SETD5 PYCR2 TK2 TRNW TBX1 TUSC3 KCNJ6 CPT1A SLC52A3 CFL2 NDUFA2 TUBB2B AMPD2 SATB2 ALG6 UFSP2 TSEN34 TMEM67 KCNJ18 ATP6AP2 DDX3X NGLY1 MFN2 SEC24C ALDH18A1 SLC5A7 ANKLE2 NSUN2 MECP2 ATP6 AFF2 SLC2A1 HADHB SLC25A12 SLC25A4 SLC25A21 SYNGAP1 CLRN1 CHRNA1 ABCB7 ABCB7 SHANK3 CAPN3 NEFH PNKP SDHAF2 STAG2 SLC25A13 SIM1 PGK1 ALG2 SMN2 TRNE FHL1 RORB PARS2 SGCA SMG9 HERC1 ARV1 VPS13D SETBP1 PLEKHG2 NIPBL IDH2 GTF2H5 PHYH CAV1 YY1 RRM2B COX1 KCNC1 PEX5 ARL2BP HSD17B4 INTS1 ACTL6B ZFR SLC6A1 IL17RD SCN2A NPAP1 SNX14 HTT PRPF3 PAX6 SMC3 MFN2 PRNP ALDH18A1 AIMP2 CSTB NPC2 RERE SQSTM1 SELENOI NRXN1 ACTA1 GPAA1 TMEM67 CLN8 TAF1 TAF13 ALS2 ATP6 CYP27A1 IGF1 CYB5A MECP2 UGDH DAG1 POLG EXT2 TPM2 GAN SARS1 RTN2 EXOSC3 CC2D1A PDGFB CEP120 GJB6 GARS1 TLR3 ABHD5 NDP AHI1 ST3GAL3 GIGYF2 EIF2B2 KIF1C GOSR2 PNP ITGA7 DCC TRNK AP3B2 FARS2 TCF4 MYOT PRPS1 SHROOM4 ADNP PRKN MKRN3-AS1 AASS TANGO2 SNCA TUBB2B FAM149B1 NEFL MPZ PANK2 GTF2I KLHL41 FLI1 APC2 ATP13A2 ALDH5A1 DNASE1L3 THOC2 FKRP DARS2 FGFR3 RORA PRX SH2B1 STAC3 ITM2B NHLRC1 SOX10 TSEN54 SCYL1 ATAD3A TRNL1 HERC2 ITPR1 TWNK MKRN3 DARS1 LDB3 ARX GLRX5 GABRB3 BIN1 ABCD4 GNAL NTN1 PROK2 PRKN CLCN2 SAMD9L CEP152 NEXMIF CYP27A1 ABCA2 PARK7 FANCC GFM1 GABRB2 HLA-DQB1 COL2A1 AIFM1 PAK3 NAXE TMEM216 ACTA1 YEATS2 SETX ND2 PTH1R GABRB3 FSCN2 C9ORF72 SEMA3A LYST DAB1 CHMP2B CDH23 WWOX TELO2 MAN1B1 STAC3 FLNA POMT1 MAP3K20 PLA2G6 PGAP3 CNTNAP1 KLHL41 MKS1 TINF2 SNAP25 AP1S2 PUF60 GLUD2 FDX2 LARGE1
Protein Mutations 0
SNP 1
rs1360780