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 2637
SMC1A WHCR CTC1 FA2H NAA10 SYNJ1 NUP133 FAM126A DNAJC6 UBE3A IL17RC ST3GAL5 TDP1 PTS TRNS2 CASR VLDLR ARX RRM2B OTUD6B FAR1 MC2R ALX4 TACR3 PAH EXT2 PIGC HNF1B ATM ABCC8 ZC3H14 CLN6 SETD5 PSMD12 TUBB3 FGF17 OCRL HESX1 KCNJ11 CCDC141 PACS1 SOX10 SMARCC2 SETBP1 PEX10 MYO5A GCDH ASXL1 HADHA CTNNB1 USP9X MAFB CNKSR2 KIF7 B3GALNT2 RPIA ATP6 CDH23 ERAP1 MAPT CLTCL1 FLI1 CYB5R3 NDST1 NDUFV1 CSF1R GRIN2A IL17RA DNASE1L3 SMS SUFU FLVCR2 TSPAN7 TMEM70 GMPPB CA8 DEAF1 ZSWIM6 NFIX SCN1A PRMT7 CCDC88A PIGG NDST1 FKRP VPS13B GABRD ALG9 KCNH1 CTRC RAP1B EIF2AK3 POMK GLI2 TRNS1 GJC2 GNB1 CEP164 KPTN SDHA LMNB2 NDUFS3 ACTG1 KIAA0556 SMG9 PROK2 GNE ND3 LARP7 PC CACNA1A ACOX1 STAMBP CPS1 COX6B1 SRPX2 SGPL1 KCNH2 DNM1 CPLX1 SOX10 SZT2 RPGRIP1L FMN2 MLH1 CLP1 POLG RPL10 ERLIN2 FTSJ1 GAL TGFBR3 KCNMA1 FCGR2B KDM6B ACSF3 TRNS1 SOX4 PTEN PROK2 GRIN2B MAPRE2 PIGW SSR4 GRIN1 SLC2A1 DHDDS SDHC ZBTB18 VPS13A HERC1 ANKH SLC9A6 PLA2G6 HIBCH NAGA SSR4 ZIC2 KCNT2 NIN ERCC2 ACVRL1 NUBPL THOC2 MFF ANKRD11 GNAS PIGS GAMT ESCO2 USP9X EFHC1 GLRX5 LRPPRC STXBP1 TUBGCP6 GCK ADSL MECP2 EZH2 UPF3B MRPS22 PAK3 HLA-DPA1 WARS2 PAX2 GATA6 SNORD115-1 ARL13B AP4E1 GCH1 PRRT2 SCN3A SLC12A5 NNT ECHS1 STT3A GABRD CHRNA2 ADAT3 FAR1 BCKDK LAMC3 PEX16 CLN8 KCNQ2 JAK2 ASPA SCN9A TSFM PROKR2 LCA5 AP2M1 CDK10 RERE PROP1 STXBP1 GATA4 STXBP1 CEP290 NDUFS2 HRAS NECAP1 NTRK2 GLI3 ASXL1 COL4A2 HCN1 WDR73 HMBS AGTR2 TBX1 SLC6A1 NBAS TXNRD2 IFT140 FGFR1 ND5 PEX3 AKT3 KCNQ2 PRPS1 NRAS EXOSC3 SDHA EIF3F AGRN ATAD3A UBA5 RPGRIP1L ADAT3 MAGEL2 DMD SUCLA2 NUS1 PEX12 KMT2A PMM2 FOXA2 EXT2 MEGF10 FLNA DIAPH1 ERLIN2 MTOR HCN1 DEAF1 BCOR NSUN2 NSDHL HDAC8 CNTN2 MMUT TRAPPC12 COG4 SPINK5 PEX26 PIGC PIGA KCNJ6 SLC17A5 GLI3 ARHGAP31 MAPK1 CIT UQCC2 NSUN2 CACNB4 PHKG2 POMT2 SPR METTL23 PPP1R15B PEX1 MYRF EOGT PHGDH PGAP1 TRNT SLC39A8 ALG3 NADK2 HLCS TANGO2 TRNL1 ANKRD11 ZFP57 ATM AKT1 ARMC9 THPO NDUFA10 CYP27A1 TRNC GABRA2 KCNA1 PRDM8 RHOBTB2 SCN9A TRAPPC11 NDUFS1 TRAF3IP2 OSGEP KCNJ11 USP7 SCN9A PRODH LETM1 MLYCD SMC3 ADGRG1 POLG TBCE VAMP1 TBX1 GLI2 TUBB4A PCDH19 TRIO PPP3CA GLRA1 PDE4D PSEN1 NDUFAF3 MECP2 FKTN AIMP2 CAMKMT RBM10 KIFBP SHROOM4 SLC46A1 PSAP LHX1 TXN2 APP GK CTNNA2 KIF11 TACO1 KIF4A RNASEH2B NDUFA9 TSEN15 SLC6A19 TMEM67 GSS GABRB3 SLC25A22 GRIN2B PIGO RPGRIP1 CHD2 SCN2A EPG5 PLPBP COL18A1 IQCB1 MFSD2A SLC9A7 ASCL1 IKBKG ZNHIT3 KCNJ5 COX20 GATA6 ALG13 HUWE1 TRAPPC11 ARSA ARF1 KIF11 SLC6A1 POU3F4 DHCR24 ARX OCLN UBE2A SCN9A NDE1 PTCH1 ACY1 DENND5A GNAS RD3 DEPDC5 CLPB PSAP FOXRED1 PHGDH SLC35A1 SH2B1 HS6ST2 ARCN1 FGFR1 TSEN54 TBCD TBC1D24 PDE10A ATP1A2 ARNT2 TRNF POMGNT1 TBC1D24 HTRA2 SLC19A2 AKT3 RELN SEC23B SPRY4 SETD5 RPL10 KIF7 POMGNT1 TUBB2B SIK1 GP9 NRXN1 MECP2 GFM1 PPP1R15B ASXL3 HLA-B TBCE TUBA8 UNC80 WDR4 COL4A1 PDHX BRAF ADAR GAS1 TBC1D24 MBTPS2 GTF2E2 NMNAT1 CASK HECW2 TRAPPC11 GDNF COL3A1 CNNM2 AP4S1 BMPR1A STX11 HEPACAM DHCR7 GALC ADA2 CCDC88C SLC25A19 ST3GAL5 GLUD1 SQSTM1 ADGRV1 CILK1 IL23R PMS1 CPT2 SLC25A20 KMT5B KCNA2 MTFMT PLK4 SLC1A2 RPS6KA3 COL4A1 FLNA ADNP MSH6 NDUFA13 NF1 PGAP3 PGAP1 NSD2 BRAF ADAMTSL2 GTF2H5 SON PIK3CA ATP6V1A KCNE1 KCNJ11 TRNP EIF2B3 SDHAF1 ARHGAP31 RBM8A AIMP1 BMP4 ROGDI CTLA4 NIPA1 SCN4B EPCAM NDN KCNQ3 UBA5 ABCD1 LIPT2 HESX1 TBL1XR1 PEX14 FA2H TRIP13 PEX13 MPLKIP MBD5 GLI3 CDKL5 AKT1 CLN6 RARS2 FLRT3 GCK RASGRP1 ATP1A1 LMNB2 PDHA1 ALG1 CENPE TCF4 ND5 NCAPD3 TNFRSF11A ARX LRP2 PCNT OTUD6B GJA1 KCNT1 PCDH19 SLC22A5 PEX1 GLS EPM2A SON UPF3B PTPN22 SLC17A5 SYNGAP1 KCNA1 TREX1 FGFR1 OPA1 D2HGDH KMT2D ARX KAT6A CPOX KCNN3 CNPY3 MFSD8 NLGN3 EFHC1 PPP2R5D CRBN SCO1 FGFR3 CASK PCYT1A VPS11 RAB39B CPA6 DNAJC6 PTCHD1 USP27X TXN2 PGAP2 WDR26 GUF1 LYST STT3B UPB1 TRMT10A TRIO LAMA2 ATP6AP2 TANGO2 NDE1 IL17RD DHX30 AHSG LYST KIF5A RNASEH2A PEX6 PIK3CA WWOX RPL10 GATAD2B GABRG2 UGT1A1 RAB39B SDHAF1 GPC3 SCN1B KPTN PEX16 FOXG1 CACNA1C GUF1 CPT1A NANS ATP6 OSGEP ZNF711 CTNND2 DSTYK TDP2 PARS2 CTU2 OTX2 FARSB POMT2 BCL10 MED12 RTTN ARL3 NONO MED12 SCN2A CASK SRPX2 GRIN1 ARX ACADM NUP107 BPTF GRIN2B MLH3 PIGA PEX5 OAT TMEM231 STX1B ABCA7 FMR1 AHI1 CHN1 CLPB GBA ABAT TPK1 CPLX1 SCN1A ALG2 ARL6IP6 RERE ARMC9 NOS1AP WWOX MTHFR CYFIP2 LAGE3 SPTBN4 ERCC6 SPATA7 DOLK SLC20A2 AKT2 GPC4 POMT2 COG8 HTT ND5 TRIP12 KCNMA1 CTSA SLC2A1 PHOX2B FGF12 ARX STXBP1 ACTB BCR TRAF7 NOTCH3 AKAP9 SPINK1 SDHD GOSR2 ABCC8 GABRD FAM111A RAB27A TBX19 CTBP1 NOTCH1 DPM1 PRODH COX3 RNU12 SIX3 PEX12 CTH TRNS1 ATIC MKS1 KCNJ6 IRAK1 HCFC1 NRAS ATP2A2 RAC1 TCTN1 HSD17B10 EFHC1 PEX19 VCP CIC SARDH NAGA TCF4 MCCC1 SCN1B CCM2 UNC93B1 ALDH7A1 CYTB POMK MED17 SMARCA4 TWIST1 SMARCB1 AKT1 RECQL4 CSTB CLCN4 FLNA MVK FAM149B1 MEF2C PSEN2 GNAO1 EBP MED12 TMEM67 GRM1 FGF8 CFH ARID2 IL1RAPL1 ATP5F1D TDGF1 ADRA2B PARS2 CACNA1A PHF6 ZNF142 DIS3L2 CAMTA1 CLCF1 PGK1 SCN5A IQSEC2 PGAP3 TRNQ NDP LONP1 SIN3A VPS53 PRRT2 FGFR2 TRIM8 PAK1 CC2D2A CHRNA7 COX8A AP3B2 VLDLR PQBP1 PTF1A KDM6A GNB1 ATP6AP2 NDUFS7 RAB18 ASAH1 AMACR SLC25A20 ITGB6 ALMS1 NRAS PEX26 LAMB1 TSC1 NDUFS2 NTRK2 GRM1 AARS1 PRRT2 PRRT2 HDAC8 COQ4 STT3B IVD SMC1A ARID1A FBXO31 MOGS KCNA1 RET RNF125 SLC25A42 COX7B SUCLA2 NF2 EFHC1 ANKRD11 GLA CDC42 FGFR2 NDUFA2 MAP1B IQSEC2 ATAD1 KCNE2 WDR73 PRKDC STXBP1 PPOX GCK ATP6V1B2 ND1 HSD17B4 GRIA3 NAXD ERLIN2 KCNJ10 GLA NACC1 DLG3 ERCC5 NDUFB8 TRDN ND6 GBA WDR73 HIVEP2 UBTF EXT2 STAG1 COMT GJA1 GBA GPSM2 MTFMT GRIK2 NAA10 PROKR2 NFKB2 SELENOI TMTC3 GLUL TGFBR2 POMT1 L1CAM MYO1H CDC42 YEATS2 POLG PIGY CARS2 LNPK KCNB1 TRNS1 FADD RAB3GAP2 ATP6V1B2 DDOST TBK1 HNRNPU COX1 ANGPTL6 CPA6 AHI1 DHPS RXYLT1 SEPSECS CKAP2L MEF2C FUCA1 KIAA1109 HS6ST1 SMARCA2 MOCS2 SIX3 ND4 TREX1 ZNF423 MYH14 MED25 XPA SLC2A1 FKRP GLB1 TRNQ CNKSR2 HMBS PTPN22 RAI1 CDK13 MGP C1QA PEX19 CBS SLC25A1 CYP27A1 RPS6KA3 USF3 COX1 COX15 XPC NAT8L ZBTB18 ARV1 ENG BUB3 PLEKHG2 DOCK7 L1CAM ADGRG1 ATP1A2 PET100 TLR3 PLK4 TRNF CCR1 EMC1 MPDU1 TMEM237 ERCC2 PSPH SMARCC2 TRNV SLC18A3 GDF6 COX14 JRK CRIPT AARS1 CEP57 TREX1 ARX PMPCB SETD2 GTPBP3 KLHL15 BCL11B NPRL3 INPP5K TRNN TGFB1 CYP27B1 HTT NDUFV1 ZNF592 BCS1L SMARCB1 CTLA4 ACADSB ALDH18A1 GPC1 CPT1A SLC25A22 WDR45 PPT1 HLA-B RAB39B JAM3 SDHD NEDD4L ARID1A PQBP1 SLC2A1 NUS1 GDI1 COQ6 CDH15 HEXA KDM6A PUM1 CDKL5 NGLY1 SLC39A8 IRF2BPL TRAK1 PIGT PSPH L1CAM ALG1 ARHGEF6 TMEM106B CNOT1 BCKDHB PRMT7 PEX26 CHRNB2 GLRB ATIC TK2 CLN8 SIN3A CPT2 SLC12A3 PRDX1 WFS1 CISD2 ST3GAL3 COA8 OSTM1 BRAT1 NRAS MRAP SPTAN1 SYN1 BCAP31 CLDN16 LSS ND5 TRNT1 NADK2 MTOR TWNK TRNF TGIF1 WDR4 KCNMA1 ALDH7A1 PRNP XPR1 MMADHC CPLANE1 PCDH12 TRDN HEPACAM FBXL4 RDH12 GMPPB ALG11 CLIC2 SETBP1 CLIC2 ATXN10 FKTN AUH SOX2 NEUROD2 TRNW ALG3 NDUFAF2 GPHN SLC6A8 CDK5 OFD1 GMPPB ARX XPNPEP3 ARNT2 HIRA DPM2 GNE TUBB2A ARSA EXOSC9 CCBE1 SNX14 MYH3 GLE1 SLC35A2 ADA2 COL18A1 RAD21 GDI1 TREM2 DPF2 KMT2D GPT2 HTRA1 SCN10A BUB1B TRAPPC9 GABRA1 KRAS KCNQ3 PIGO ERCC3 ALDH18A1 ANTXR1 RAB11B GTPBP2 PLA2G6 EIF2B2 TBC1D20 AHDC1 ASNS FAS MED23 SCN1B PDGFB WDR45 PCCB HLA-DPB1 INSR SLC45A1 AUTS2 POLE TGDS GRIN2A PTRH2 MECP2 TMEM138 SLC35A2 TMLHE CYP26C1 SIK3 MECP2 KCNJ11 SCN3A ST3GAL3 PEX2 WDR81 PIK3CA CLCN2 GCDH COQ2 GABBR2 HNRNPU TRNK RAI1 TRNL1 TMEM106B KIAA0753 TIMMDC1 CRLF1 COG2 NDUFS4 ZNHIT3 CACNA1H PAH HAX1 GNAQ KCNQ2 PIGP GRIN2D ECE1 LINS1 CYTB KCNQ1 DEGS1 TK2 NDUFAF2 TRNP IQSEC2 ATP6V1A SLC45A1 LBR CEP120 ACTA2 ATRX ANK1 NEXMIF FKRP ETHE1 TREM2 PRRT2 TLK2 GDF2 PMS2 GBA PUS3 PIGV EIF2B1 TSC2 ATR MORC2 BCORL1 LETM1 NDUFS4 ETHE1 CHD1 SNAP29 LARS2 PIGL RRM2B TSEN54 EFTUD2 GABRG2 CDON P4HTM CEP120 ARG1 AGA BCOR FAM111A SCN8A PDE6D TMEM70 PHKA2 GNAQ CDH11 NDUFA2 CLIP1 ALDH5A1 ARSA ZEB2 NAGLU MTHFS CNTN2 TP53 COL13A1 MARCHF6 EARS2 SIK1 GUCY1A1 DNM1L USP45 GLS TRNK PWAR1 ECM1 YEATS2 CDH23 IKBKG ALDOB ANK3 TUBA8 ADK POGZ ARX PACS1 PRICKLE1 KCNC1 ELP1 FRG1 IL12B POU1F1 TPRKB GPR161 PEX1 GNB5 PEX5 SCN8A MEN1 SETBP1 KDM5C TUSC3 NDUFS8 CPLX1 IARS1 ACTG1 POMGNT2 BOLA3 SPP1 OPHN1 SORL1 PTEN AIFM1 OTX2 MSH2 GPHN NEXMIF PDP1 KCNQ1 CCM2 ANK2 ALG11 SYT2 SCN1A POGZ RAB39B CHD2 B3GALNT2 FOXP1 GRIN2D SCN3A DBT NF2 BMP2 NIPBL TSEN54 MECP2 NIN RUBCN CLN8 ATP1A3 SMS UBA1 GNAQ SDHD CREBBP FBLN1 ATP6V1E1 IFIH1 CLTC PEX19 PEX1 SPATA5 MYO5A SRD5A3 NDUFS7 MID2 EPG5 SPG11 SARS1 ATP6AP2 PYCR2 MYORG CHD1 FMN2 ERCC4 PYCR2 CXORF56 SOX11 PEX1 PTH MLX HLCS SLC12A6 CENPJ NUP133 GMPPB TWNK POLG KCNT1 KCNB1 NIPA1 HPD IVD CHD7 NDUFAF3 PEX11B NEU1 DOCK6 RBPJ CLEC7A PSAP CNTNAP2 TRNL1 PNPO IDH2 LINGO1 CALM1 RANBP2 CRBN ALG6 DAG1 TRAPPC6B EBP C11ORF95 GM2A PIEZO2 PDCD10 CHKB GBA DNMT3A CCND2 PPP2CA GBA ZBTB20 AIP ALKBH8 TACO1 AGA RPS20 DPH1 GNAO1 DYNC1I2 SCN2A CUL4B EGF ACVR1 NDUFB11 ANK3 STX1B RELN CTSA TRNK DCPS MTRR C9ORF72 TBX1 NR2F1 SLC19A3 PEX11B SCN2A ND1 DOCK6 MAPK8IP3 POMT2 SETD2 SLC6A5 COL1A2 KMT2E MEN1 CLCNKB NFASC MTHFD1 COX2 FASTKD2 MCPH1 AASS ITPA HADH FGFR3 GPAA1 FKTN TRAPPC9 SASS6 DIP2B RPE65 PDX1 BCKDHA ACADM PAK3 SARS1 FBP1 C12ORF4 GLYCTK NDUFA11 MTM1 CHD8 SH2B1 SNRPN TBC1D23 AIFM1 SYP COG8 ND1 CKAP2L CASQ2 SNIP1 PLA2G6 FCSK CC2D1A CBS ATP5F1A UBE2A LMX1B NDUFB8 MAF FIG4 COX7B NSD1 ACADS GABRB2 CEP41 ADAM22 NTRK2 TBR1 IPW MYO5A INS MEFV TRNK FOLR1 FRMPD4 INPP5E PIGN CCBE1 TMEM216 HADHA ACSL4 ALDH4A1 WASHC4 ACSF3 TTR DDX3X PIK3R2 SMC3 KANSL1 NEK1 FGFR1 PEX7 TRNS2 CYP2R1 SOX5 CYB5A PCK1 POLG2 SEC24C TSC1 ATP8A2 CRB2 ALG13 MPDU1 C1R AKT2 B3GLCT NF1 POMT1 MPC1 ADAMTS3 PIGN ERCC6 TYROBP TRRAP KCNH1 HCN1 AVPR2 CACNB4 SDHA SDHB SDHB POMC ZC4H2 SUOX ATP13A2 ACAT1 POMGNT1 PHACTR1 ACVRL1 GABRB1 VARS1 VPS11 NDUFS6 KRIT1 NDUFA12 TBCK B4GAT1 MED25 NNT NDUFV2 TIMM50 PSAP MTRR CRADD PEX14 LRP2 ARX SLC16A1 SZT2 MOGS CDKL5 GNAS VPS13A GBA TREM2 MMACHC SLC1A4 NPC1 DISP1 PEX5 CNPY3 SMARCE1 MAN1B1 SLC25A13 APP WDR11 SNORD118 DNASE1 LARGE1 PPP2R1A YWHAG PTEN AVPR2 FGFR3 NDUFAF6 CAV3 COQ9 LAMA2 TREX1 PIGP PSMD12 PEX10 SNAP25 ALAD HADHB HGSNAT SALL4 TELO2 PEX26 NONO DCC RAB27A CAMTA1 KIAA0586 CASK ARV1 B3GALNT2 AFG3L2 RREB1 TWNK SMARCA2 ASAH1 SLC19A3 PLCB1 PSAT1 RPGRIP1L PURA FOXRED1 GCK PEX13 FKTN ROBO3 PGM3 SLC2A1 CARS2 SYNJ1 GYS2 SLC33A1 KLLN PEX2 POMT2 TBC1D24 SAMD12 STXBP1 GABRG2 DDX3X TUBGCP4 TOE1 DLL1 SERAC1 TECR LMAN2L AQP2 TICAM1 GP1BB PSEN1 KCNH1 CYFIP2 FARS2 PCDH19 COG5 FRMPD4 TWNK POLA1 ND6 GJC2 USP18 HYLS1 SP110 PRTN3 PIGL HESX1 GAD1 ALG2 GRN STUB1 ENG AIPL1 CHAT ZNF81 RSRC1 GABBR2 TRNI DPAGT1 TRNF CHRNA4 MKRN3-AS1 ACTL6B SLC19A3 LAS1L CTSD DNAJC19 TRAK1 SMPD1 RAB18 CLTC PRDM16 RELN ATXN10 FLI1 L2HGDH STAT3 ATP6V0A2 GABRA1 PEX6 ALDH5A1 QARS1 LRAT CNTNAP2 SLC35A3 FOXG1 TSEN54 SKI CACNA1E OSTM1 PIK3R2 IL1RAPL1 GPT2 CC2D2A PPP2R1A ADD3 TBC1D20 GLI3 CRLF1 CD96 KDM6A KCNJ10 PRKAG2 ATRX SCO2 PTEN PEX2 PSAP ND4 PEX6 RELA MTR UFC1 PPM1B SCN8A DHDDS SCN8A SIK1 ARFGEF2 AQP2 POMC DYRK1A CLCN2 SCN10A PIGG SLC12A1 SLC3A1 EPRS1 SC5D ATP7A RERE SUCLG1 TYROBP NDUFA1 COL3A1 PODXL TDP2 EIF2S3 TRAPPC9 PDX1 SDHA HSPD1 PEX14 TP53 ATRX FUCA1 PIGW INSR AMPD2 ELMO2 PGAP2 ABCC8 NSD2 MECP2 TUBA1A GMPPB GABRB2 HADH SMARCB1 RAP1A PSAT1 WDR11 KLF13 SCN2A ERCC8 MED12 QDPR PEX5 GYS1 PRRT2 CRADD STARD7 GRIK2 DARS2 MVK TRMT1 ANOS1 KRAS ATP5F1A FTL GNS FAM111A AP4S1 ARX NDUFB11 TOE1 RORB GRIA3 POLG2 GLI2 CPT2 SHH STAR TRIT1 FOXH1 ALDOB ATAD1 TBC1D24 PROKR2 UBAC2 SGSH SCN1A RFT1 SNTA1 TSC2 TMEM67 EDN3 NDUFS8 MBD5 ST3GAL5 NAGS GABRB3 PCSK1 AP1S2 PRSS1 KDM5B SLC2A1 CCDC115 NGLY1 ATRX NEU1 TRNQ NTNG1 POMT1 HTT TOMM40 SLC6A8 ERMARD LMBRD1 BCOR KCNQ3 TARS1 ATN1 DLD TMEM231 PIGV SLC13A5 PNPO PROP1 APP PEX6 CHRNA7 PDSS2 DPYD HMGCS2 B9D1 KRAS TRAF3 POLG GRIN2A PDGFRB EGF NACC1 NALCN TBX19 USP9X PIGN DOCK7 ACY1 CLN5 OTX2 PPP3CA ARG1 TCIRG1 NHLRC2 DCX GMPPA CPLANE1 AP4E1 KCNJ1 DLL4 SEMA3A DCC NUP214 PAFAH1B1 GYS2 TRNW SPTAN1 EMG1 RNU4ATAC SLC12A6 FA2H AP4B1 BCS1L FTO ARFGEF2 ARID1B APC2 KMT2A SAMD9 SCN2A PACS2 TRNH ATP6V1A KMT2C ATP1A3 ERCC1 PEX3 GPAA1 RNU4ATAC CTSF TBX1 DCX ATP6 TFAP2A AP3B2 HCCS PRKCD ALPL MSX2 FGF12 PIGT CASQ2 PEX13 TCTN3 SNRPN FLVCR1 ARHGEF9 CAMK2A SCARB2 TBC1D24 MCCC2 ISCA1 TBC1D24 KAT6A NFIX B9D2 MAN1B1 PTCH1 HESX1 HIBCH IL17F NPAP1 FRRS1L TUBB2B FAN1 SLC13A5 NFIA FAS ATP6V1A ABCC9 PROC HADH VPS13B SIK1 TBK1 CAMK2A ATP6V0A2 PDSS2 COLGALT1 GTPBP3 MICAL1 FADD RYR2 CERT1 LIPT1 WWOX NTRK2 PEX16 MANBA SOX3 GRIN2A TNIK SCN1A SLC25A1 BDNF TRPV3 RPS6KA3 CRKL KCNE1 GABBR2 TMEM94 SURF1 NDUFAF6 BTD SCN8A LHX4 POLG ARSA KCNA2 PTCH1 PLAGL1 PDCD10 UBE3A WDR62 MMADHC DPM2 TBP NECAP1 CHMP2B ARID1B NEK9 TSC1 SMC1A MACF1 MEFV PEX5 COQ8A GABRA1 ATP7A PLA2G6 TLR3 CACNA1B PEX13 ISG15 COQ2 YWHAE XK CYP27B1 CEP104 CPT2 LAS1L PEX6 NECTIN1 XPR1 CCDC141 IER3IP1 ACOX1 POMGNT1 LGI4 AVPR2 HYMAI PREPL ASH1L FXYD2 MAPK10 FEZF1 SOX10 YWHAG APP IL12A FASLG ERCC6 PWRN1 KCNJ11 KCNQ5 TSC1 PHOX2B BUB1 L2HGDH LARGE1 FMR1 BSCL2 PLAA ENG UCP2 CNTNAP1 COG7 POLR3A SLC2A1 UFM1 PSMB8 KCNA2 CILK1 KCNQ3 STS CPS1 IL12A-AS1 WFS1 PPA2 NELFA SURF1 ARHGEF9 SUFU TRIP13 MKS1 EIF2B4 AMER1 COX10 HDAC8 GNAS PEX2 POLA1 SRPX2 ATP6V0A2 SCN1B BRAF DHFR KISS1R SETBP1 KMT2A NSD1 NEUROD2 SLC5A7 ACO2 RANBP2 ZFYVE26 NDE1 DNMT3A RFT1 NEDD4L PTEN LMAN2L SEMA4A MOCS1 UFD1 RARS1 EPM2A RNASEH2A RNASET2 MC1R FGFRL1 FGFR2 FGFR1 SERPINI1 CSNK2A1 HMGCL DHCR24 KIF1A WDR26 CACNA1D FGFR3 NDUFB11 JMJD1C CDKL5 MEIS2 TP53 TPP1 IFNG FAT4 PLCB1 DGUOK MBTPS2 MAN1B1 SAMD12 FCGR2A TBCK KRAS SNORD116-1 GABRA5 TBCE KCNQ2 FUT8 ATN1 ZDHHC9 SLC25A22 RMND1 NSD1 RTTN NUS1 NDUFAF5 SCN1A MMAA CHD2 CTNNB1 COX2 PIGL ALDH3A2 RUBCN IBA57 FARS2 PEX19 PIGQ PROKR2 GLRA1 HYMAI TRNH ATN1 FGF8 FBP1 ASXL2 TP53RK SLC25A4 ADGRV1 SMARCB1 ASPA TMTC3 DPYS OCRL TULP1 SLC52A2 ADNP TECPR2 GABRG2 CUX2 TRAPPC12 METTL23 TCF4 NKX6-2 STAT4 HACE1 GRN SPAST SPATA5 CSPP1 FKRP HCFC1 NDUFAF4 TRNL1 POMT1 BTD VARS2 AMACR AUH SYP ND2 RPS6KA3 RAC1 IMPDH1 DPM1 HCN1 IRF3 TUBB3 SLC1A3 PRPS1 STRADA RNR1 ALDH3A2 LAMA2 DLD TSEN2 MGP POMK ANKLE2 GBA RNF113A GUCY2D HMGCL TSC2 TBCE KDM5C ZNF41 UNC80 DNM1 CLP1 KIF15 PCCA FRRS1L OPHN1 MAST1 FGFR3 NDP OTC KCNJ13 SLC6A19 ABCC8 ABCC8 SUMF1 PEX3 PEX14 KIF2A WARS2 PTS IREB2 GLUD1 NSUN2 ASL ALPL ERCC5 UBTF ECM1 RSRC1 WAC TECPR2 PPP2R5D PSAP CUL4B COX10 TRMT10A ABCC8 FRA16E JRK SMARCE1 PDHA1 PDGFB ABCA5 ARX NDUFS1 GCSH CACNA1D KAT6B MBOAT7 TBCE ALG9 PIK3R2 HERC2 HNF1A MID2 ATP6AP1 MANBA STXBP1 TMEM216 HNF4A ERCC3 PHF6 CEP41 PRDM8 STRADA SHROOM4 TRAPPC2L SCN2A CCNQ KRAS IDS ND6 NOTCH3 EZR GLDC INPP5E PET100 EP300 FKTN PEX3 COX15 MC2R NLGN4X KIF1A CUX2 VDR TRNW NODAL MBTPS2 PHOX2B MICOS13 PRF1 NAGA SC5D PIGM PMM2 PNKP PAH HACE1 KLRC4 NOS3 TMEM237 LGI1 GM2A KCNK4 CLPP PLAGL1 PEX10 MTOR KCNAB2 NPRL2 ERMARD PEX16 TAT ARID1B B4GAT1 PIGY NAXE FH INS SHANK3 ARF1 SLC1A2 PERP CC2D2A CEP290 KATNB1 GATA3 ADPRS AP4M1 TAF1 MTO1 TRPM6 DNM1L KCNQ2 SCN11A GABRD STX16 OFD1 CAD CPT2 GCM2 PIBF1 HRAS HERC2 EEF1A2 TCTN2 GNAO1 MPL TWNK ACTB DNM1 MMACHC CRPPA IFIH1 HNRNPH2 DUSP6 RAI1 GABRA1 GJC2 IQSEC2 COG2 LIG4 TUBGCP6 SURF1 LAGE3 DBH KCNH1 GABRG2 SHANK3 SLC35C1 STAG1 ATP1A3 NPHP1 PSAP EFTUD2 GRIA4 TBCE OCLN CACNA1A LARGE1 KRIT1 NIPBL ST3GAL3 PEX10 KCTD7 LIAS ARHGDIA BRAF DHCR7 BUB1B CNKSR2 NSDHL HIC1 ASXL3 AFG3L2 ERCC2 NOTCH1 DEAF1 ATAD3A PIGH MDH2 EHMT1 SMAD4 TMEM165 TAF1 SLC1A4 PLPBP GABRB3 CAMK2B C4A PEX12 TRAPPC11 CRB1 INPP5E SYNGAP1 WDR45 KIF5C NHLRC1 SLC2A1 SLC35A3 OFD1 CLCN4 ADSL LARS1 SLC1A3 MAGEL2 ALG13 GNAS EHMT1 CALM2 SYN1 NARS2 COQ8A MYO9A EEF1A2 AP4B1 EDC3 FLII TMEM237 SLC25A15 SPR ANO10 SLC13A5 CC2D2A MKRN3 NSMF MGAT2 CXCR4 CLN3 MED25 SLC12A3 POLG SLC46A1 CACNA1B DLG3 LHX4 SCN1B DDB2 CEP290 SYNJ1 TLR4 PAFAH1B1 PLP1 TRNV PIK3CA NPC2 BSCL2 NDUFAF5 COG4 ZSWIM6 SMAD4 STT3A AP3D1 MCTP2 TCF20 DPAGT1 CERS1 IL10 EIF2B5 SNX14 NALCN PRSS12 TSC2 PEX11B BRAT1 COA8 CLCN4 FBXO11 GEMIN4 CASP10 GCM2 SET DYNC1H1 EXTL3 ROBO1 DNAJC5 STAT4 MARCHF6 TWNK ARVCF FTSJ1 RORA COX3 AAAS HERC1 POLR3A PLAA ASPM CDKL5 PCLO ABCC8 MPDZ TBL1XR1 RNASEH2C GFAP TREX1 TBC1D24 GPHN NDUFA4 COG6 PRRT2 MBOAT7 CFHR1 EEF1A2 IQSEC2 PHACTR1 PUF60 DHDDS SLC25A12 TRNS2 RNF213 HDAC4 PNPLA8 SAMHD1 KLHL7 CFHR3 FGFR2 AP4M1 SLC12A5 STAG2 TUBB2B FLCN SLC9A6 PRUNE1 MIPEP TUBG1 GABRG2 PSEN1 EIF2S3 AIMP1 HNMT SLC25A15 PHF21A CRX PEX5 RAB3GAP1 ELOVL4 PRNP MAP2K1 SLC13A5 SCN9A EXTL3 GP1BB SATB2 SLC52A3 FGFR3 NAGS ROGDI IQSEC1 HCCS SMARCA4 C12ORF57 NOTCH2NLC MECP2 KCTD7 ERMARD HPRT1 MSX2 ACTL6B KAT6B GP1BA PANK2 TDP1 PNKP FAS HUWE1 TP53RK TBCD CDON MECP2 NHLRC1 EML1 ASS1 GAMT GABRB3 CD96 TRNL1 AMT CNNM2 KCNC3 MLC1 PEX12 MED12 TRNK
Protein Mutations 1
A147T
SNP 5
rs1024611 rs1360780 rs222797 rs2297201 rs2298771
HP:0100022: Abnormality of movement
Genes 3142
SMC1A FUS WHCR PLEKHG4 CTC1 FA2H SYNJ1 FAM126A UBE3A AR DMXL2 ACTA1 ST3GAL5 NAA10 C12ORF65 CAPN3 PAH CHRND PRRT2 ZC3H14 SETD5 PSMD12 TUBB3 CPT1C FGF17 HESX1 CCDC141 EEF2 MYO5A GCDH LMNA USP9X MAFB B3GALNT2 CDH23 ERAP1 MAPT POLG CYB5R3 NDST1 NDUFV1 ND4L CSF1R FLVCR2 TGFB3 VCP TUB SCN1A CCDC88A PRKCG FKRP GABRD EIF2AK3 TRNS1 ACTA1 SIM1 VAMP1 PRPF6 KNL1 KPTN SDHA CNGA1 MICU1 SMG9 PROK2 GNE CHCHD2 XRCC2 LARP7 ARHGEF18 MMP13 PC FLNC STAMBP PRPF3 PRNP DAG1 CPLX1 SZT2 KDM5B BIN1 MLH1 CLP1 POLG ERLIN2 KANK1 TIMM8A RYR1 KCNMA1 DNM2 DOCK3 ACSF3 UROC1 SLC2A1 AP5Z1 SYNE1 VPS13A BVES HERC1 ARSI SLC9A6 IGF1 ERCC2 THOC2 MFF SQSTM1 FHL1 PIGS GAMT WDR48 USP9X COL6A1 GLRX5 UPF3B PAM16 CHCHD10 DMD DNAJB2 SNORD115-1 AP4E1 GCH1 TMEM240 PRPS1 ECHS1 MYH7 LDB3 GABRD COL6A3 MAN2B1 GRID2 POMT1 FAR1 KCNQ2 C8ORF37 CRAT SPG7 DNAL4 TSFM AP2M1 ALDH6A1 GJB1 GATA4 NDUFS2 CYP2U1 GDAP1 AGTR2 TBX1 MATN3 ITGB3 FGFR1 ND5 PEX3 TRNE COL6A1 FKRP ATAD3A FTL XRCC1 RPGRIP1L ABCA4 ADAT3 MAGEL2 DMD TULP1 PEX12 TIA1 ERLIN2 MTOR MRPS16 DEAF1 TRIM32 KBTBD13 NSUN2 GCH1 NSDHL ND5 PANK2 GMPPB CNTN2 LEMD3 TRAPPC12 TGFB1 PEX26 KCTD17 MPZ CACNA1G SLC18A3 PIGA KCNJ6 VCP COL12A1 TKT CIT MBTPS1 NSUN2 CACNB4 PEX1 PHGDH SYT1 SLC39A8 TRNL1 ARMC9 NDUFA10 GABRA2 DCAF17 TRAPPC11 NDUFS1 SLC18A2 ALDH18A1 ACTA1 CHCHD10 LETM1 SMC3 POLG PPP3CA MECP2 DNMT1 FUS COL10A1 SHROOM4 SLC46A1 EYA1 TBX4 CTNNA2 KIF11 SETX ELOVL4 RNASEH2B ARL2BP NDUFA9 NDUFS2 ATXN2 TSEN15 GSS MFN2 GRIN2B CHD2 SCN2A TBR1 PLPBP PEX10 INF2 FUZ ZNHIT3 ALG13 PRX HUWE1 TRAPPC11 ARSA SLC6A1 ARX SLC6A17 SLC52A3 RRM2B FAM126A TPI1 CLPB GUCY2D PSAP TAF6 SLC35A1 SH2B1 C19ORF12 CHRNG ARCN1 ATP1A2 TRNF SDHC POMGNT1 HTRA2 PYROXD1 SPRY4 LYST SETD5 POMGNT1 TUBB2B SIK1 CHP1 NRXN1 FGFR1 KIAA1549 MECP2 GFM1 CCN6 HLA-B TUBA8 UNC80 WDR4 ARID2 COL4A1 HTT GTF2E2 CASK TRAPPC11 FKRP CRYAB BMPR1A TPM2 GALC RNASEH1 CILK1 IL23R ND6 RFXAP SLC52A2 NEK2 ACTA1 CERKL ADNP FANCA WDR45B MSH6 TTBK2 NDUFA13 TPM2 NTN1 PGAP1 NSD2 PIK3CA ATP6V1A TRNP SDHAF1 AIMP1 BAG3 NIPA1 ATCAY NDN KCNQ3 ITPR1 COASY ELOVL4 CDKL5 MYH7 SPTBN2 CYP2R1 CLN6 RARS2 PRPF31 MYORG ALG1 ND5 OTUD6B GJA1 GTF2I FKRP SLC17A5 CEP135 SYNGAP1 PRPH2 SLX4 ADAR CRBN TCOF1 LHCGR GNB4 PLEKHG5 RAB39B PNPT1 DNAJC6 ATXN3 TXN2 WDR26 GJB1 AK9 FANCI KIF1A TRIO LAMA2 DHX30 KIF5A SCN4A WWOX GABRG2 UGT1A1 ERLIN2 FKRP TPM3 KPTN PEX16 GUF1 ATP6 MED25 CHRNA1 ZNF711 DDHD2 ACTA1 MED12 ARL3 NONO GNAL TELO2 SCN2A SYT2 DCAF17 MLH3 OPA3 AHI1 CHN1 CLPB TRPV4 MYOD1 ABAT JPH1 SCN1A RERE PRKAR1B ACER3 SPTBN4 LMNA HGSNAT ATRX CYTB WWOX HTT ATP1A3 TAZ BEST1 SLC25A1 ATP6AP2 GOSR2 FSCN2 GABRD ND4 ERCC6 RNU12 ADH1C CTH FMR1 MKS1 DAG1 HCFC1 FHL1 TBK1 PAX1 SLC6A9 PMP22 C12ORF65 HSD17B10 FTL SARDH DOK7 TCF4 TERT POMK MED17 TWIST1 SMARCB1 PDGFRB SH3TC2 ABHD12 FAM149B1 C12ORF65 HINT1 SAG GDAP2 MED12 GRM1 KIAA0586 PHIP IL1RAPL1 ATP5F1D SIGMAR1 ADRA2B MERTK HNRNPA2B1 UCHL1 CACNA1A IQSEC2 PGAP3 LMNA NDP TRPV4 PRRT2 VPS35 TRIM8 KCNA1 EGR2 NEK1 ND6 ATXN3 CHMP2B KCNJ18 FANCE SDHD LAMP2 AMACR TSC1 NDUFS2 ABCA1 PRRT2 DHDDS GARS1 DYSF SLC25A42 KCNC3 ATL1 TTN WDR73 GRIA3 NAXD TGM6 GLA SPEG SHOC2 ND6 GBA FN1 UBTF TRPC3 COMT ATP6 COL2A1 ATXN8 NT5C2 SELENOI ROM1 TGFBR2 POMT1 YEATS2 PIGY ND2 LNPK PARN NCAPD3 DDOST COX1 EXT1 DEAF1 CIZ1 DHPS RXYLT1 SEPSECS ABCB7 SACS MAFB MOCS2 ND4 ZC4H2 PCNA MYH14 MED25 SLC2A1 CNKSR2 TGFB1 MMUT TSEN34 ARV1 OPA1 PLEKHG2 LDB3 ADGRG1 FLRT1 DHX38 PET100 MTMR14 GARS1 EMC1 TMEM237 FKBP10 ERCC2 DPP6 RLBP1 SLC18A3 AARS1 TREX1 PMPCB MUSK CHMP1A MME CYP27B1 NDUFV1 GJB2 MYL2 ALDH18A1 IFIH1 CPT1A SLC25A22 WDR45 PPT1 IFT88 SCN4A SLC6A3 SDHD EPAS1 PHYH PUM1 ACTA1 CDKL5 RDH12 ABCD4 MARS1 IRF2BPL TRAK1 IDUA IDH3A PIGT DHH MCCC2 GLRB PRDX1 ST3GAL3 BRAT1 LIMK1 SNCA CHMP2B ND5 NADK2 KCNMA1 TSHR INPP5E XPR1 KIZ ERCC1 CPLANE1 PCDH12 CYP7B1 COX3 ALG11 CEP126 ATXN10 ITPR1 PEX1 ALG3 ATP7B AR GPHN PNKD CDK5 OFD1 TMCO1 HIRA DCAF8 MCPH1 KCNA4 APP GLE1 SYNE1 HSPD1 TREM2 ATXN2 POLG TRIM2 GPT2 FUS HTRA1 KRAS CHD4 PLA2G6 LARGE1 EIF2B2 CEP152 MED23 WDR45 SLC30A9 SGCE AUTS2 PGM3 GRIN2A RLIM MECP2 PANK2 PMP22 RFXANK UBA5 POLR1C VCP SCN3A PEX2 BICD2 WDR81 PIK3CA ITGA7 COQ2 MPZ TMEM106B KIAA0753 MPZ PSAP NDUFA9 CACNA1H ADAR ALS2 PEX6 DEGS1 HAL SLC45A1 SCN8A GJB6 CANT1 RNASEH2B FKRP ETHE1 TREM2 PRRT2 TLK2 PMS2 ATP8A2 PIGV EIF2B1 TSC2 ATR AIP MORC2 LETM1 SGCG ABCB6 SLC6A17 COMP NDUFS4 CHD1 SNAP29 DCTN1 RAD51C GABRG2 VPS13D P4HTM CEP120 KLHL41 WASHC5 SCN8A STIM1 JAG1 TMEM70 DAB1 SCN9A MRE11 GNAQ NRL CFAP43 NDUFA2 DNAJB6 FLVCR1 RTN2 CNTN2 PABPN1 COL13A1 VAC14 NEB EARS2 TRNK REEP1 PWAR1 DNM2 ECM1 YEATS2 ATCAY ANK3 POGZ TBP ARX ADCY5 MICU1 SETBP1 IDH1 NDUFS8 PARK7 PMP22 HPCA OPHN1 PMP22 SPTLC1 SPTBN2 MSH2 GPHN GNAL FBN1 NEXMIF PDP1 SDHA PMP22 SYT2 RAB7A B3GALNT2 FOXP1 SYT1 FLNA NF2 SMN1 DYM TSEN54 MECP2 RUBCN ATP1A3 SMS SDHD CREBBP FBLN1 IFIH1 PEX19 PHYH MID2 EPG5 MYOT SARS1 FMN2 IDH2 ERCC4 PYCR2 ENTPD1 CXORF56 PEX1 COX3 SLC12A6 LMNA GPR101 IARS2 POLG KCNB1 SPART SCN4A PEX11B VPS33A TTBK2 COPB2 TRNL1 PNPO CRBN ALG6 DAG1 TRAPPC6B EBP C11ORF95 GM2A CHKB GBA MYOT ALKBH8 NEFL TACO1 AGA RPS20 GNAO1 MTRR PDE10A C9ORF72 NR2F1 SLC19A3 PEX11B ADSS1 ND1 POMT2 ELP1 SETD2 MEN1 GCH1 SNAP25 ATXN3 ACADM RAD51 PAK3 PDSS1 GLYCTK MTM1 SNRPN TBC1D23 TSHR HLA-DQB1 COG8 GYG1 SLC7A14 BCL11B ACAN GJB1 FCSK CC2D1A LMX1B COL6A3 LAMA1 NSD1 HK1 IPW DARS2 TMEM107 MEFV TRNK MYL1 CCBE1 ACSL4 WASHC4 TRNS2 CYP2R1 ERCC3 UBQLN2 POMT1 POLG2 SCAPER SEC24C CCT5 NUP62 ALG13 TAF13 POLG LRP4 NDRG1 RTEL1 OGDH CACNB4 ZNF469 TNFSF11 SDHA RYR1 SDHB SUOX POMGNT1 NDUFA12 MED25 SLC25A4 TENM4 WNT3A PSAP MTRR CRADD SGCD COQ2 SZT2 CDKL5 SBDS VPS13A TREM2 SLC1A4 GNB5 TRPV4 LMOD3 MAN1B1 PDE6G SLC25A13 SNORD118 DRD5 DMD ELN YWHAG TTN COQ9 PROM1 PIGP PEX10 AR DNAJC6 HADHB SALL4 TELO2 FHL1 MFN2 DCC KIAA0586 CASK REEP6 ARV1 AFG3L2 RREB1 CTDP1 TWNK ASAH1 REEP1 PSAT1 PURA AIFM1 FANCC CRPPA PGM3 WDR81 DDX3X RAI1 SCN8A TOE1 SERAC1 LMAN2L GFER L1CAM GP1BB PSEN1 CYFIP2 CHRNB1 POMK DDRGK1 COG5 DKC1 GJC2 HYLS1 PREPL ATP7B GRN CHAT CD109 ZNF81 RSRC1 GABBR2 TAF1 CXORF56 NEFH DPAGT1 OFD1 SLC19A3 PRSS12 SETX UFSP2 SMPD1 TPP1 PRDM16 ATXN10 FLI1 CRPPA L2HGDH GABRA1 FOXG1 IL1RAPL1 SYT14 GPT2 CC2D2A AFG3L2 ADD3 KIF1B SCO2 PDXK KIF5A PSAP SLC29A3 RELA MFSD2A SPG11 DYSF MTR SCN8A B4GALNT1 DHDDS PIGG SRP54 EPRS1 SMARCAL1 SLC39A13 RERE RPGR NAGLU NDUFA1 PODXL EIF2S3 GSN FANCL GGT1 HSPD1 FUCA1 SMN2 NSD2 MECP2 SLC2A1 UBA1 GLRX5 KLHL9 SMARCB1 WDR11 SCN2A SLC5A7 GBA2 PEX5 STARD7 GRIK2 DARS2 NRXN1 ANOS1 OPA3 ABCB7 CHST3 KRAS MTMR14 GNS AP4S1 ATXN8 TOE1 MATR3 PDE10A PNPT1 EIF4G1 TRIT1 PRICKLE1 ATAD1 SGSH GTF2E2 RFT1 TMEM67 MBD5 ST3GAL5 HOXA2 COQ2 SLC2A1 NGLY1 AGTPBP1 TRNQ POMT1 HTT SLC6A8 TGFB2 LIFR TMEM231 PIGV SLC13A5 PEX6 CHRNA7 LMNA DPYD SDHAF2 LRP12 TRAF3 SAMD9L MGME1 EGF ANOS1 APTX NACC1 LTBP4 TTN DOCK7 POMT2 NHLRC2 AP4E1 APTX SEMA3A NUP214 DNAJB6 NDUFA12 TRNW GPR88 SPTAN1 PEX6 MYPN MYH2 AP4B1 SCN1A BCS1L APC2 KMT2A PACS2 TRNH ATP1A3 ERCC1 ATXN7 PEX3 NKX2-1 OXR1 CTSF TBX1 ATP6 PCBD1 NEB FGF12 PIGT RAPSN PEX13 SCARB2 NOL3 ISCA1 TIMM8A AHI1 FAS MRE11 FBN1 ATP6V1A PROC SIK1 COL6A2 TBK1 CAMK2A RNF168 CERT1 NTRK2 ELP2 RUSC2 TNIK MPV17 SCN1A GALT CRKL GABBR2 SURF1 NDUFAF6 POLG ARSA KCNA2 WDR62 DPM2 TBP NECAP1 CHMP2B TARDBP SGCB TLR3 CACNA1B PEX13 XK CEP104 IER3IP1 TNFRSF1B POMGNT1 LGI4 SOX10 VCP COL4A1 IL12A ERCC6 PWRN1 KCNQ5 RYR1 BBS2 SOD1 LARGE1 FMR1 BSCL2 PLAA RP9 SCYL1 COG7 SCN4A VPS13C IL12A-AS1 CSTB REEP1 SURF1 BEAN1 MKS1 PEX2 NLGN3 DHFR NEB MTPAP KMT2A PEX3 RARS1 NEUROD2 SLC5A7 ZFYVE26 SLC52A3 GDAP1 MOCS1 UFD1 RARS1 EPM2A C9ORF72 PODXL MARS2 FBLN5 SATB2 FGFRL1 SERPINI1 CSNK2A1 COL6A2 TPM3 CDKL5 IFNG PMP22 PALB2 RPE65 TBCK THRB HPRT1 ATN1 ATP6 ZDHHC9 PRPS1 RMND1 NSD1 SCYL1 RTTN NUS1 COL12A1 AAAS MMAA PHC1 ADSS1 ATP13A2 RUBCN MAP11 PEX19 PRCD TRNH EED TAF1 FGF8 SLC25A4 ZNF513 DPYS OCRL TECPR2 GABRG2 COL9A3 CUX2 METTL23 PUS7 STAT4 HSPB1 CORO1A CSPP1 HCFC1 EP300 POMT1 AMACR SYP ND2 RPS6KA3 PMP2 RAC1 NAA10 CHRND RNR1 ATXN2 THAP1 GBA PDE6B LIFR HMGCL KDM5C DNM1 CLP1 GBE1 PCCA SNCA TPM3 TUBB4A NUP88 ALG14 ABCC8 HPCA NKX2-1 PTS PEX11B NSUN2 LMNB1 ERCC5 RSRC1 WAC ATP2B3 TECPR2 CUL4B COX10 JRK COL6A3 CAPN3 PDGFB MORC2 NDUFS1 BSCL2 FKRP ORAI1 BEAN1 EIF4G1 PANK2 STXBP1 DST RFC2 COL6A1 ERBB3 ERCC3 PDE10A PUF60 SYNE1 ND6 INPP5E POMT2 NEK9 FKTN KIF1A NLGN4X DPM3 TRNL1 VDR GNA11 TRNW CENPJ PFN1 MICOS13 PNPLA2 SC5D LRAT GDAP1 CIT ALS2 AIFM1 TMEM237 SUMF1 REEP2 MYOT GM2A CNTNAP1 POMGNT1 KCNAB2 CHD7 LPIN1 ENPP1 MAB21L1 B4GAT1 PPM1D NAXE SHANK3 ARF1 CHRND TCAP MAPT ATP8 TAF1 SBF1 TOPORS DNM1L KCNQ2 STX16 OFD1 MICOS13 PIBF1 TCTN2 TKT ISCA2 TWNK DNM1 VPS35 CRPPA CNTNAP1 HNRNPH2 TRPC3 CCDC88C DUSP6 RAI1 GABRA1 GJC2 SURF1 IBA57 TRIP4 BBS1 NPHP1 CHRND BRIP1 DCTN1 CACNA1A ANO3 ST3GAL3 ADCY5 DHCR7 NSDHL ACTA1 TPM2 ND1 AFG3L2 ERCC2 DEAF1 HSPG2 MDH2 ADCY5 TAF1 SLC1A4 C12ORF65 PLPBP C4A C19ORF12 TRAPPC11 INPP5E SYNGAP1 CA4 WDR45 WNT1 NHLRC1 CD28 SLC2A1 CIITA VPS37A RFC1 ABHD5 EYS EHMT1 OTOG NARS2 COQ8A KLHL41 AP4B1 EDC3 FLII SPR TMEM43 MGAT2 PRNP CXCR4 SAR1B VPS37A POLG CACNA1B PMP22 CCDC28B SCN1B PRNP GIGYF2 TLR4 PLP1 BSCL2 NF2 NDUFAF5 COG4 ZNF408 COL9A1 MCTP2 TCF20 CHRNE HSPB8 EIF2B5 CWF19L1 PRSS12 SAR1B TSC2 BRAT1 FIG4 COA8 GEMIN4 HSD17B4 SQSTM1 DYNC1H1 DNAJC5 MAPT MARCHF6 DMXL2 ARVCF FTSJ1 ND4L CRPPA RORA COL12A1 BSCL2 TOR1A POLR3A CDKL5 PCLO RNASEH2C GPHN MBOAT7 EEF1A2 PUF60 DHDDS ADCY6 SLC25A12 TRNS2 HDAC4 PNPLA8 FGFR2 SLC12A5 TTN SLC33A1 MAG PRUNE1 PSEN1 HNMT SLC25A15 PINK1 PEX5 ARHGEF2 SLC13A5 SCN9A KLHL41 EXTL3 DRD4 SLC52A3 IQSEC1 APC2 NOTCH2NLC KCTD7 ALG2 IMPDH1 GARS1 PDE8B TBCD ALS2 C19ORF12 GAMT CHCHD10 TRNL1 QRICH1 KCNC3 SMN1 VANGL1 TRNK PDYN KY CTDP1 SLC18A2 AP1S2 DNAJC6 TDP1 DARS1 PTS GDAP1 REPS1 VLDLR SLC25A46 SPTBN2 RRM2B OTUD6B MPZ TACR3 IFT172 PIGC LIPT1 ATM ATP7A MATN3 BSCL2 OCRL PRNP PNKD SOX10 SMARCC2 KY TNNT1 GLUD2 PLP1 YY1 CNKSR2 MYF5 MME DDHD1 FLI1 TRNN GRIN2A DNASE1L3 SMS SUFU MPV17 TSPAN7 ATP6 COL2A1 PRPF4 CA8 DEAF1 NFIX PGK1 PIGG ALG9 PITX3 CHAMP1 MAPT GJC2 NDUFS3 SMN1 KIAA0556 ND3 CHRNA1 FUS CACNA1A ACOX1 EMD SRPX2 DNM1 SOX10 RPGRIP1L ATXN3 ACTA1 TRIM37 RPL10 VAMP1 COL9A2 CAV1 OPTN KDM6B NDUFS2 TRNS1 USP8 GRIN2B KCND3 GRIN1 BIN1 MYH7 HIBCH NAGA NUBPL GNAS EFHC1 TPM2 LRPPRC STXBP1 MECP2 HSD17B10 VCP PAK3 WARS2 MAPT GBA2 ARL13B PSEN1 PDK3 PRRT2 ACD CHRNA2 VRK1 ADAT3 PNPLA2 CYP7B1 POC1A GP1BB SCN9A SLC52A2 CDK10 BRCA1 RERE PIK3R5 STXBP1 STXBP1 RFWD3 PRX NTRK2 HCN1 MAG SMPD1 PRKN SLC6A1 PRPS1 NRAS EXOSC3 SDHA AGRN ALG2 ARL6 UBA5 ITPR1 SUCLA2 NUS1 KMT2A PMM2 ALDH18A1 SLC25A19 EXT2 EXT2 MEGF10 UROC1 CACNB4 DSTYK MAPT MMUT DDHD2 NOG GDAP1 PIEZO2 MAPK1 UQCC2 DOK7 SPR NBN DRD3 HARS1 PPP1R15B TRNT IGF1 NADK2 TANGO2 ATP13A2 SCN4A TAF2 ATM ARL3 AKT1 CEP63 CYP27A1 KCNA1 TPM2 PRDM8 RHOBTB2 COL2A1 GRID2 ITGA2 RYR1 USP7 VAMP1 TBX1 GNE TUBB4A PCDH19 TRIO GLRA1 DHTKD1 PSEN1 NDUFAF3 WNK1 FKTN AIMP2 RBM10 LMNB1 GAA PSAP TXN2 UBE2T APP DMD SLC6A19 WASHC5 TMEM67 GABRB3 ZSWIM6 SH3KBP1 MAPT MFSD2A MAP3K20 SLC9A7 IKBKG ATL3 SIL1 MRPS34 LARGE1 CSF1R MPZ POU3F4 RFX5 FAM161A COX6A1 KLHL40 NDE1 PTCH1 ACY1 DENND5A GNAS MYH7 FOXRED1 DNA2 TOR1A TBCD TBC1D24 PDE10A TONSL APOB TBC1D24 HTRA2 KIF7 NKX6-2 KYNU PPP1R15B AARS2 ASXL3 MAPT PDHX BRAF ADAR TBC1D24 HECW2 AP4S1 WARS1 DHCR7 ADA2 TSPYL1 COL6A1 ORAI1 ST3GAL5 GLUD1 SQSTM1 ADGRV1 GRM1 TTI2 MTTP PMS1 KCNA2 MTFMT SLC1A2 COL4A1 ATXN1 COQ2 AGRN RRM2B PGAP3 DYM GTF2H5 FANCM VHL PEX10 EIF2B3 COMP CAPN3 BSCL2 FBXO7 EPCAM PLD3 UBA5 ABCD1 LIPT2 HPRT1 PEX14 FA2H ELOVL5 MPLKIP MYF6 FLRT3 TBK1 ATP1A1 LMNB2 CEP152 PDHA1 TCF4 TTPA PCNT KCNT1 CCN6 EPM2A UPF3B KCNA1 PPP2R2B TREX1 CLRN1 COL2A1 OPA1 ARX CNPY3 NLGN3 EFHC1 PPP2R5D FGFR3 CASK OPA1 PTCHD1 USP27X PGAP2 CFL2 GUF1 LYST UPB1 ND4 TRMT10A RPE65 ATP6AP2 TANGO2 IL17RD LYST ATXN8OS RNASEH2A SPATA7 PEX6 AHR GATAD2B SFXN4 RAB39B SDHAF1 FOXG1 SNAP29 VAMP1 CTNND2 DSTYK PARS2 POMT2 COL2A1 VAPB RTTN TRPV4 MED12 GRIN1 ARX GRIN2B SPG11 PIGA PMP22 PEX5 STX1B ABCA7 FMR1 CACNA2D2 VCP TPK1 SEMA3E CPLX1 TIA1 ALG2 WWOX MTHFR KLHL40 CYFIP2 SYNE1 PTCHD1 KCNA1 RNASEH2C GABRA3 POMT2 OFD1 ALS2 HEXB TRIP12 MAPT DRD2 PDGFB SLC2A1 TWNK FGF12 STXBP1 BCR RRM2B NOTCH3 SLC33A1 LINS1 CTBP1 CRX DPM1 PRODH CRB1 NKX2-1 COMP IFRD1 PEX12 DPF2 KCNJ6 SACS PDE4D TNIK MSTO1 RAC1 TCTN1 EFHC1 VCP CIC PDE4D LRP4 PRRT2 MCCC1 SCN1B DNAJC21 UNC93B1 DES INPP5K LMNA MFN2 DPM3 CSTB CLCN4 JPH3 PIK3R5 MEF2C PSEN2 TYMP GNAO1 EBP STUB1 TK2 TMEM67 PNKP NEFL PARS2 ZNF142 CAMTA1 PRNP DNAL4 SIL1 CACNA1G ATP6 CPLANE1 TRNQ SIN3A CCT5 PAK1 COL6A2 SNCA AP3B2 VLDLR PQBP1 PTF1A STAC3 GNB1 ATP6AP2 NDUFS7 RAB18 NTRK1 PARK7 ASAH1 CACNA1G GAN FGD1 GFPT1 NTRK2 GRM1 MCOLN1 AARS1 PDE8B SMC1A GMPPA FBXO31 HACD1 KCNA1 KMT2B RYR1 PNPLA6 RNF125 SUCLA2 FANCD2 ACTB MAP11 SCO2 ERCC2 SLC25A11 C9ORF72 IQSEC2 ATAD1 GUCA1B FKRP CACNA1A STXBP1 DCPS GCK ND1 ERLIN2 FXN KCNJ10 SLC16A2 NACC1 ERCC5 SPG21 THRA HIVEP2 PLOD1 EXT2 CFL2 GJA1 GBA ACTB MTFMT GRIK2 TRMT5 GLUL FLNC MMP2 CARS2 COMP MMP13 SQSTM1 SURF1 AHI1 CKAP2L MEF2C HS6ST1 TFG FGD1 CAPN1 TREX1 XPA GLB1 PRKRA PCNA RAI1 HPGD ELN SLC25A1 MFN2 CHD3 CYP27A1 COX15 XPC NAT8L UQCRQ RAI1 NTN1 SPRED1 TRNF CCR1 MAD2L2 HSPB1 COL6A3 ATP1A2 TRNV GCLC JRK EGR2 PEX12 CLCNKB INPP5K LRSAM1 HTT BCS1L POMT1 HSPB3 TOR1A DNMT1 CHRNB1 RAB39B JAM3 ZFR SLC2A1 GAN ATL1 BICD2 NGLY1 SNCAIP SLC39A8 ATXN7 MFN2 SQSTM1 ARHGEF6 TMEM106B SLC34A3 PEX26 POLR1D COL2A1 TK2 SIN3A WFS1 KIF1C GRN SELENON OSTM1 POMT1 ZFYVE26 SPTAN1 TBL2 ENTPD1 BCAP31 ATL1 TWNK PMPCA POLR3B DHTKD1 ITPR1 ALDH7A1 PRNP PDYN MDH2 PRPF8 MMADHC YY1 FBXL4 PRKCG GMPPB XPA SCN4A SETBP1 ASPM CLIC2 KNL1 AUH SLC20A2 TNNT1 NEUROD2 PRNP NDUFAF2 SLC6A8 TMEM240 ARX CLCN7 XPNPEP3 GNE ACSL4 ARSA PEX7 MAP3K20 EXOSC9 SNX14 ADA2 RAD21 GDI1 ADAMTS13 TRAPPC9 GABRA1 PIGO ERCC3 ALDH18A1 RAB11B NBN FANCF GTPBP2 SPG11 ASNS SCN1B SETX PCCB MATR3 MPZ DLST HSPG2 PTRH2 TFG SLC35A2 IGHMBP2 ALS2 MECP2 ERCC4 ST3GAL3 OPA3 GCDH ATP1A1 GABBR2 RAI1 TRNL1 MMP13 NDUFS4 COL6A3 ZNHIT3 PAH PRDM5 KCNQ2 PIGP SDHB GRIN2D LINS1 TK2 TRNP IQSEC2 SPG7 LBR ACAT2 CEP120 ATRX NEXMIF RNF113A GBA PUS3 CACNA1A BCORL1 NLGN4X PNP COL12A1 AFF2 PSMB8 TGM6 MCCC1 PIGL RRM2B TSEN54 ARG1 PDE6D NDUFA13 TPM3 LRRK2 ITPR1 CLIP1 DNAJC12 KBTBD13 ARSA NAGLU MLXIPL COL12A1 SPAST MARCHF6 SIK1 DNM1L TUBA8 PACS1 PRICKLE1 KCNC1 ELP1 BAZ1B PRPS1 MAX CHRNG SCN8A IBA57 KDM5C TUSC3 CPLX1 AMPD2 POMGNT2 HIKESHI MECP2 BOLA3 DYM SORL1 ALDH18A1 SDHB GLB1 TRNW RET KIDINS220 IFT140 RAB39B SCN3A MYOT SBF2 SYNJ1 CLN8 GTF2IRD1 UBA1 MPZ CLTC GP1BA PEX1 SCN9A NDUFS7 AARS1 DLAT SPG11 ATP6AP2 PYCR2 RP1 UBAP1 HSPB8 TWNK DNM2 GBA NIPA1 CACNA1A ARL6IP1 CHD7 NDUFAF3 NEU1 PSAP CNTNAP2 KIF14 RAB3GAP2 PIEZO2 OPA3 CA8 ZBTB20 TMEM43 TOP3A DPH1 DYNC1I2 SCN2A ALDH18A1 CUL4B SCP2 ANK3 TRNL2 KIF1C TRNK DCPS TBX1 B4GALNT1 SCN2A RHO MAPK8IP3 SLC6A5 PEX2 NFASC COX2 ERBB4 HSPD1 AASS ITPA GPAA1 FKTN USH2A ATP2B3 LRP5 LRRK2 PMP22 FHL1 CLCN2 CP C12ORF4 SH2B1 DKK1 AIFM1 SPART NKX2-1 CKAP2L SLC30A10 VHL SNIP1 PLA2G6 CHRNA1 KIF14 DNM2 NDUFB8 ADCY6 GABRB2 CEP41 NTRK2 MYO5A FRMPD4 INPP5E HDC HADHA HMGA2 DNMT1 TTR DDX3X KANSL1 SOX5 CYB5A HNRNPA1 AFF2 ATP8A2 PIGN ERCC6 TYROBP SLCO2A1 EEF2 DCC MAT1A WDR62 HCN1 ZC4H2 ATP13A2 ACAT1 LMOD3 VARS1 LITAF RFC1 RTN2 TBCK SNX10 ITM2B APC NDUFV2 TIMM50 ERCC4 TSPYL1 GNE ATP13A2 SDHD AFG3L2 MMACHC POLR3A NPC1 PEX5 MARS1 PMP22 PPP2R1A FGFR3 NDUFAF6 EMD MATN3 LAMA2 SEMA4A SNAP25 MUSK THAP1 HGSNAT NONO FGF14 CAMTA1 B3GALNT2 MARS2 SLC2A1 SLC19A3 PLCB1 RPGRIP1L TARDBP FOXRED1 FKTN CC2D1A CARS2 SGCA EBF3 PEX2 FGF14 SAMD12 STXBP1 GABRG2 PRDM5 TECR TICAM1 EFL1 NOP56 ATP13A2 VDR FARS2 GATAD2B TRIM32 PCDH19 FRMPD4 TWNK LAMP2 AUTS2 SHANK3 DRD5 PIGL AP1S2 GAD1 GMPPB STUB1 CD59 SETX TRNI TRNF MKRN3-AS1 ACTL6B DNAJC19 TRAK1 ERLIN1 CLTC COLQ DCC ALDH5A1 QARS1 LGI4 FKTN CNTNAP2 TSEN54 SKI CYTB COASY CACNA1E SLITRK1 CTBP1 OPA1 PPP2R1A TTPA ATRX GFPT1 ND4 KIF1A KIF1B ZMPSTE24 UCHL1 HSPB1 UFC1 SIK1 VHL DYRK1A PPP2R2B CLCN2 DDC SLC39A4 SUCLG1 TYROBP ABCC6 TRAPPC9 BIN1 SLC39A14 SDHA VAPB PEX14 TH PIGW KCNK9 AMPD2 LARGE1 CASR GMPPB ZFYVE27 GABRB2 AP5Z1 CLIP2 ERCC8 MED12 QDPR PRRT2 MPZ PLA2G6 CP NDUFS3 CDK5RAP2 ARX DCC HTRA1 FGD4 RORB GRIA3 TMEM127 TUBB4A CRYAB KARS1 TBC1D24 UBAC2 MED13L POLG PNP IDUA RETREG1 NDUFS8 GABRB3 RMRP AP1S2 FDX2 PEX7 KDM5B DNAJC13 ATRX NEU1 MTPAP NTNG1 TOMM40 CDK6 KCNQ3 TARS1 ATN1 RET DLD POLR1C TPP1 PNPO ALG14 B9D1 KRAS RNASEH1 POLG PLEC AMPD2 FKTN NALCN PIGN CLN5 PPP3CA PDGFB GMPPA GBE1 CPLANE1 ACTA1 BRCA2 MYPN TRNE POMT1 L1CAM MGME1 SQSTM1 GMPPB EMC1 LRAT DNA2 FA2H ATXN8OS PRKAR1A STUB1 MYPN PINK1 GPAA1 PDE6A CLCNKA AP3B2 ALPL ERLIN1 TRPV4 TTC8 TCTN3 SNRPN FLVCR1 TBC1D24 MCCC2 FMR1 KCTD17 ITM2B TBC1D24 KAT6A NEFH MAN1B1 HIBCH VWA3B NPAP1 FRRS1L TUBB2B DES FAN1 SIGMAR1 POLA1 ANO10 DYNC1H1 ANO5 COL13A1 UGT1A1 ND1 RAD51 LIPT1 WWOX RNF170 KCND3 MANBA GRIN2A DPAGT1 ADAR RPS6KA3 VCP UBE3A MMADHC DMD TSC1 ERCC5 MACF1 SPG7 DKK1 COQ8A SPEG ATP7A PLA2G6 POLR3A SGCD KIF5A CYP27B1 STIL PEX6 REEP2 CCDC141 ACOX1 SPG11 JPH3 AIFM1 MAK ASH1L MAPK10 FEZF1 XRCC4 YWHAG IDUA MCOLN1 SASS6 ATP1A3 GFM2 CNTNAP1 POLR3A SLC2A1 SLC9A1 UFM1 KCNA2 STS NELFA MYH3 TFG PDK3 EIF2B4 HDAC8 GNAS TTC19 LYRM7 SCN1B CACNA1A NEFL KISS1R ACO2 RANBP2 FBXO7 STN1 PTEN ND2 SEMA4A RNASEH2A RNASET2 C19ORF12 KDM1A PMPCA ITGA2B CFAP43 HMGCL KIF1A CYP2U1 TTN DGUOK IDH3B WDR26 RAPSN CACNA1D SNCA JMJD1C TPP1 RSPRY1 PLCB1 DGUOK SAMD12 C9ORF72 SNORD116-1 GABRA5 ARL6IP1 SLC18A3 STAG2 KCNQ2 YME1L1 SLC25A22 PNKP ND5 REEP1 LRRK2 NDUFAF5 RAD51 CPT1C GIGYF2 CHD2 FARS2 PIGQ PROKR2 NEB GLRA1 PCARE ATN1 BCAP31 KLC2 SYNE2 PLP1 SLC2A3 TIMM50 TRMU LAMB2 SLC52A2 ADNP TRAPPC12 FBXO38 KLHL41 THOC2 TCF4 NKX6-2 SPG21 TCIRG1 HACE1 VCP SPAST SMN1 ANO3 SPATA5 TRNL1 EGR2 FKRP NDUFAF4 ASCC1 AUH PRPS1 ALDH3A2 CAPN1 LAMA2 WIPI2 TSEN2 POMK RNF113A ZNF41 UNC80 STS MTM1 KIF15 FRRS1L OPHN1 MAST1 SLC6A19 FXN TINF2 PEX3 RGR WARS2 IREB2 TCTN2 ATXN1 UBTF MECR PSAP FLNC DNAJC21 STAC3 SIGMAR1 PDHA1 ARX SLC6A3 GCSH CACNA1D MBOAT7 PAX6 RP2 HERC2 HNF1A CACNA1A MID2 TMEM216 HNF4A CEP41 PRDM8 SGCE STRADA DYNC1H1 SHROOM4 TRAPPC2L PSEN1 NOTCH3 DNAJC3 EZR GLDC PIEZO2 EP300 HTRA2 COX15 KIF1A CUX2 TH DOK7 PRPH NAGA PMM2 PNKP PAH HACE1 KLRC4 DYSF SAMD9L KIF1B SLC30A10 TAF2 TIA1 KCNK4 NT5C2 PRKN FARS2 PEX16 MPZ TAT COA7 PIGY COLEC11 SLC1A2 CHRNE IMPG2 TBP PNPLA6 KATNB1 KIF1A RBP3 FAT2 ADPRS AP4M1 MTO1 DNAJC3 MME CAD HRAS GLRB HERC2 GNAO1 GDF6 DAB1 RETREG1 RYR1 IFIH1 POMT2 MCM3AP FOXP1 LIG4 MAPT SHANK3 HINT1 ATP1A3 PSAP GRIA4 MAPT OCLN ALDH18A1 CACNA1S LARGE1 NIPBL NR2E3 PRKRA PCGF2 PEX10 LIAS KLHL7 CCDC88C CTLA4 CNKSR2 CNGB1 POLR3B DYSF ASXL3 ATAD3A DBH AGBL5 GBA2 GABRB3 CAMK2B NR4A2 PEX12 ALS2 CLCN4 ADSL DDHD1 MAGEL2 SEPTIN9 PLEKHG5 MSTO1 MYO9A EEF1A2 SLC25A15 ANO10 SLC13A5 COL9A2 CC2D2A NOP56 MKRN3 NSMF CLN3 SLC46A1 DLG3 RAB3GAP1 GBE1 ANKLE2 DDB2 SYNJ1 IGHMBP2 NPC2 TRNS1 HARS1 AP3D1 CNTN1 SGCA C12ORF4 CERS1 IL10 SNX14 NALCN VPS13C FBXO11 CDHR1 BSND CHST3 TWNK GBA COX3 AAAS HERC1 PLAA ASPM NUP62 TBC1D24 TTI2 NDUFA4 NEB FH KLC2 PRRT2 TRPV4 PHACTR1 SLC16A2 FANCG SAMHD1 PYCR2 AP4M1 STAG2 TSHR COX1 SELENON FLCN SLC9A6 MAOA GABRG2 ATXN8OS EIF2S3 AIMP1 SNRNP200 FHL1 FANCB PRNP ELOVL5 SATB2 CWF19L1 ECHS1 SCARB2 PGAP1 HNRNPDL NAGS SPTBN2 PNPLA6 PTH1R MECP2 COL6A3 COL6A2 ERMARD HPRT1 MYH14 ACTL6B LAMB2 PANK2 TDP1 PNKP SLC39A14 HUWE1 AIFM1 MECP2 NHLRC1 ITPR1 AMT CNNM2 MED12 DCTN1
Protein Mutations 0
SNP 1
rs1360780