SNPMiner Trials by Shray Alag

rs12979860 (38) rs6971 (31) rs9939609 (11) rs6265 (11) rs738409 (11) rs7903146 (8) rs4680 (8) rs8099917 (8) rs11200638 (6) rs429358 (6) rs10490924 (6) rs7412 (6) rs16969968 (5) rs25531 (5) rs1801133 (5) rs1800497 (5) rs1799971 (4) rs4244285 (4) rs2832407 (4) rs1045642 (4) rs1544410 (4) rs10033464 (3) rs1761667 (3) rs6166 (3) rs1042713 (3) rs2023239 (3) rs1051730 (3) rs174537 (3) rs1006737 (3) rs2230199 (3) rs1128503 (3) rs2231142 (3) rs10455872 (3) rs6313 (3) rs1061170 (3) rs776746 (3) rs4588 (3) rs2069514 (2) rs1799963 (2) rs9332739 (2) rs2032582 (2) rs3745274 (2) rs6295 (2) rs12936231 (2) rs6280 (2) rs7103572 (2) rs35599367 (2) rs13266634 (2) rs1410996 (2) rs6025 (2) rs4129267 (2) rs70991108 (2) rs174547 (2) rs1127354 (2) rs362331 (2) rs53576 (2) rs35705950 (2) rs641153 (2) rs1695 (2) rs2234246 (2) rs10741657 (2) rs1800955 (2) rs2106261 (2) rs4149056 (2) rs2234237 (2) rs362307 (2) rs3808607 (2) rs1828591 (2) rs1800470 (2) rs1024611 (2) rs12785878 (2) rs3751143 (2) rs762551 (2) rs165599 (2) rs2200733 (2) rs1150226 (2) rs4646 (2) rs3798220 (2) rs3813929 (2) rs25487 (2) rs10830963 (2) rs2472677 (2) rs2281135 (2) rs4986893 (2) rs3211938 (2) rs8050136 (2) rs1801131 (2) rs855791 (2) rs5219 (2) rs4646437 (2) rs2228570 (2) rs2070744 (1) rs1017783 (1) rs4986938 (1) rs2297201 (1) rs377637047 (1) rs2298771 (1) rs1799724 (1) rs7799039 (1) rs7041 (1) rs7586970 (1) rs8175347 (1) rs1799853 (1) rs1799732 (1) rs6190 (1) rs9344 (1) rs3918242 (1) rs7549785 (1) rs3796529 (1) rs10835211 (1) rs3570920 (1) rs1998199 (1) rs2274333 (1) rs78408340 (1) rs28363170 (1) rs2987983 (1) rs833069rs (1) rs41524547 (1) rs12529 (1) rs1042522 (1) rs11958940 (1) rs34743033 (1) rs13058338 (1) rs2043211 (1) rs5082 (1) rs6739405 (1) rs4958351 (1) rs6296 (1) rs3761624 (1) rs13333226 (1) rs179008 (1) rs4802703 (1) rs547154 (1) rs7521902 (1) rs867186 (1) rs641738 (1) rs2540923 (1) rs2297480 (1) rs1672717 (1) rs4869676 (1) rs10163409 (1) rs4869675 (1) rs236114 (1) rs6165 (1) rs700518 (1) rs11615 (1) rs3025039 (1) rs11795404 (1) rs3816527 (1) rs999737 (1) rs10836235 (1) rs1256049 (1) rs27072 (1) rs614367 (1) rs12434438 (1) rs137852620 (1) rs3853445 (1) rs35874116 (1) rs3747158 (1) rs1799930 (1) rs20432111 (1) rs5068 (1) rs1310182 (1) rs7604448 (1) rs20455 (1) rs1042714 (1) rs3114018 (1) rs2269273 (1) rs6269 (1) rs1042711 (1) rs2269272 (1) rs861529 (1) rs18011131 (1) rs9340799 (1) rs2235046 (1) rs316019 (1) rs10995190 (1) rs1260326 (1) rs4570625 (1) rs1042718 (1) rs2250656 (1) rs731236 (1) rs2307227 (1) rs41524745 (1) rs6841581 (1) rs1049353 (1) rs244072 (1) rs13208321 (1) rs35463555 (1) rs1052533 (1) rs3918226 (1) rs61747728 (1) rs4073 (1) rs904627 (1) rs2295190 (1) rs2053044 (1) rs10153820 (1) rs754203 (1) rs547987105 (1) rs2562582 (1) rs2494732 (1) rs619824 (1) rs8176528 (1) rs1360780 (1) rs833061 (1) rs16147 (1) rs72552763 (1) rs9679162 (1) rs2280964 (1) rs7975232 (1) rs1726866 (1) rs10813831 (1) rs6504950 (1) rs806380 (1) rs6856901 (1) rs45511401 (1) rs573562920 (1) rs3210140 (1) rs887829 (1) rs7221412 (1) rs628031 (1) rs20417 (1) rs2687133 (1) rs7579240 (1) rs174535 (1) rs679620 (1) rs2060793 (1) rs806377 (1) rs1800629 (1) rs66554220 (1) rs1800624 (1) rs3750920 (1) rs1042522s (1) rs10246939 (1) rs2550946 (1) rs2279744 (1) rs909253 (1) rs2071559 (1) rs1024582 (1) rs10930214 (1) rs13387042 (1) rs17601696 (1) rs2046210 (1) rs8065080 (1) rs4604006 (1) rs2002555 (1) rs757110 (1) rs2910164 (1) rs1061325 (1) rs4950928 (1) rs10994336 (1) rs11548193 (1) rs73049 (1) rs9457827 (1) rs1883112 (1) rs17782313 (1) rs12459419 (1) rs150018775 (1) rs708272 (1) rs2275163 (1) rs12762549 (1) rs10941679 (1) rs699947 (1) rs2895795 (1) rs2697153 (1) rs45500792 (1) rs30461 (1) rs550842646 (1) rs2067085 (1) rs1051931 (1) rs333 (1) rs3853839 (1) rs956572 (1) rs4900442 (1) rs3755166 (1) rs324015 (1) rs271924 (1) rs3758673 (1) rs3758674 (1) rs11572080 (1) rs4151667 (1) rs894278 (1) rs10859871 (1) rs2294918 (1) rs933226 (1) rs9657182 (1) rs571312 (1) rs20715592 (1) rs12201199 (1) rs1786378374 (1) rs13376333 (1) rs17070145 (1) rs17561 (1) rs34489327 (1) rs7571842 (1) rs11133360 (1) rs2235321 (1) rs678849 (1) rs8069645 (1) rs35059413 (1) rs6454674 (1) rs2853884 (1) rs737865 (1) rs183489969 (1) rs7333181 (1) rs1143623 (1) rs71647871 (1) rs4149032 (1) rs17037122 (1) rs1062613 (1) rs2516513 (1) rs1048661 (1) rs11126727 (1) rs11568821 (1) rs1049524 (1) rs11568820 (1) rs1049522 (1) rs172378 (1) rs10994133 (1) rs924607 (1) rs2488457 (1) rs1143633 (1) rs11039155 (1) rs1143634 (1) rs2464266 (1) rs396991 (1) rs562696473 (1) rs11126731 (1) rs8105790 (1) rs10509681 (1) rs12041331 (1) rs1805010 (1) rs6013897 (1) rs16139 (1) rs2234693 (1) rs35652124 (1) rs4693608 (1) rs961360700 (1) rs2305948 (1) rs4343 (1) rs5743844 (1) rs4883263 (1) rs10033900 (1) rs4883264 (1) rs2243250 (1) rs2241193 (1) rs17614942 (1) rs2383206 (1) rs1800592 (1) rs613872 (1) rs4803217 (1) rs11031006 (1) rs1047768 (1) rs12208357 (1) rs4488809 (1) rs1800588 (1) rs2227902 (1) rs1549339 (1) rs3184504 (1) rs2248949 (1) rs222797 (1) rs1643649 (1) rs4803455 (1) rs2853564 (1) rs780094 (1) rs2231137 (1) rs6434222 (1) rs3825942 (1) rs112735431 (1) rs751402 (1) rs9701796 (1) rs1202167 (1) rs1202168 (1) rs1202169 (1) rs12472215 (1) rs4311 (1) rs2279238 (1) rs3766404 (1) rs7349683 (1) rs3781727 (1) rs1800450 (1) rs7157609 (1) rs529802001 (1) rs2257401 (1) rs3817198 (1) rs1217414 (1) rs1045485 (1) rs2278392 (1) rs2476601 (1) rs7993418 (1) rs13181 (1) rs4673 (1) rs2097432 (1) rs324011 (1) rs1079598 (1) rs1800566 (1) rs1800682 (1) rs603965 (1) rs993607 (1) rs1790349 (1) rs1044396 (1) rs3742376 (1) rs6592052 (1) rs9332377 (1) rs16111115 (1) rs11559024 (1) rs1149222 (1) rs11870474 (1) rs25331 (1) rs2929116 (1) rs2929115 (1) rs7961953 (1) rs2242480 (1) rs4532 (1) rs222747 (1) rs105173 (1) rs2165241 (1) rs1800795 (1) rs2075606 (1) rs11648486 (1) rs35874116rs (1) rs4795541 (1) rs2282679 (1) rs7853758 (1) rs1504982 (1) rs1176713 (1) rs11249433 (1) rs12467815 (1) rs10524523 (1) rs4880 (1) rs12760457 (1) rs2062305 (1) rs3828057 (1) rs3790515 (1) rs11687951 (1) rs1800896 (1) rs254093 (1) rs4994 (1) rs4633 (1) rs1885988 (1) rs11099592 (1) rs6843082 (1) rs17611 (1) rs2228171 (1) rs1042173 (1) rs41432149 (1) rs926198 (1) rs12992677 (1) rs2305619 (1) rs1800888 (1) rs61729512 (1) rs2266782 (1) rs1653624 (1) rs664393 (1) rs2246704 (1) rs11959427 (1) rs4848306 (1) rs3765467 (1) rs2246709 (1) rs2089760 (1) rs2180439 (1) rs2242447 (1) rs2981582 (1) rs12654788 (1) rs5275 (1) rs1053230 (1) rs1906591 (1) rs2010963 (1) rs11102930 (1) rs2601126 (1) rs2854116 (1) rs2854117 (1) rs16944 (1) rs17778257 (1) rs16942 (1) rs1801282 (1) rs5751876 (1) rs762251 (1) rs3803662 (1) rs10264272 (1) rs28399433 (1) rs230561 (1) rs12654778 (1) rs4364254 (1) rs10177833 (1) rs2238071 (1) rs1801275 (1) rs10766197 (1) rs704010 (1) rs10937405 (1) rs2228480 (1) rs9526240 (1) rs17570669 (1) rs10407022 (1) rs4612666 (1) rs6746030 (1) rs889312 (1) rs243866 (1) rs2740565 (1) rs1558902 (1) rs8192620 (1) rs10865801 (1) rs58542926 (1) rs3789604 (1) rs1801260 (1) rs2273773 (1) rs10757274 (1) rs573112 (1) rs2244613 (1) rs10757278 (1) rs6330 (1) rs1056892 (1) rs11931074 (1) rs2075252 (1) rs1297860 (1) rs28459296 (1) rs2380205 (1) rs780094s (1) rs9557195 (1) rs11045585 (1) rs1801253 (1) rs1801132 (1) rs11569562 (1) rs2104772 (1) rs15524 (1) rs2854275 (1) rs2066842 (1) rs12255372 (1) rs6323 (1) rs1057910 (1) rs1051375 (1) rs544684689 (1) rs2234237r25r (1) rs6318 (1) rs9826 (1) rs7120118 (1) rs12356193 (1) rs8111699 (1) rs7270101 (1) rs17042171 (1) rs1062033 (1) rs553668 (1) rs185670819 (1) rs1405655 (1) rs6311 (1) rs518147 (1) rs10401969 (1) rs4516035 (1) rs33996649 (1) rs10276036 (1) rs1465952 (1) rs2232618 (1) rs549927573 (1) rs41308230 (1) rs2293152 (1) rs2237060 (1) rs5215 (1) rs4820059 (1) rs12329760 (1) rs12676 (1) rs11083519 (1) rs16874954 (1) rs35597368 (1) rs1799983 (1) rs5573 (1) rs2229774 (1) rs2731886 (1) rs5574 (1) rs2302616 (1) rs12221497 (1) rs4973768 (1) rs5569 (1) rs2032892 (1) rs13281615 (1) rs4820268 (1) rs10079250 (1) rs1799750 (1) rs9366637 (1) rs4148738 (1) rs10456542 (1) rs25648 (1) rs9984723 (1) rs766996587 (1) rs2398162 (1) rs7291050 (1) rs1011970 (1) rs4253728 (1) rs12143842 (1)

SNPMiner SNPMiner Trials (Home Page)


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
Conditions
  1. Movement Disorders
Interventions
  1. 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 2887
SMARCA4 TBC1D24 ND4 PRDM8 SLC1A4 ZBTB18 GYS2 TMEM94 SCN1B SETBP1 GAD1 GPHN TXN2 COG4 LSS PGM3 FXYD2 TRIT1 POMT1 FOXG1 GRN BCL10 CTNNB1 EEF1A2 NR2F1 CRADD GP1BB ANGPTL6 ASS1 HS6ST1 GABRA1 ADRA2B EXTL3 GDNF NDUFS1 SLC25A19 SEC24C CALM1 SUCLA2 ANK2 PAH NELFA GABRB3 NOVA2 NCAPD3 KCNQ1 CHN1 COG2 AP4E1 PEX11B PEX11B RYR2 FKRP TDP1 FRMPD4 CCDC141 WWOX NSD2 CYTB FBXL4 PCYT1A KRAS ATP5F1D TSEN54 TRIP13 FTSJ1 ERCC1 FEZF1 KCNH1 ARF1 RNU4ATAC FOXH1 PERP IKBKG SETBP1 BTD MAGEL2 GTF2E2 PEX10 CDK19 NF1 HEPACAM PRF1 NDUFS6 HNRNPH2 ASXL1 AHDC1 KCNJ6 SEC31A IRF3 MLH3 NECAP1 FTSJ1 GCDH PIGG C12ORF4 NSD1 TSC2 PLA2G6 SPINK5 PRPS1 LAMA2 WDR45 NAGLU KMT2A DLD SHROOM4 EMC1 C12ORF57 PPP2R1A KIF2A COQ2 GRIA4 PGAP2 TMEM67 ARX ATP6V0A2 CSNK2B EFHC1 KIF11 JAM2 ARSA SYNJ1 TRNP CDH15 KIF5C SUCLA2 RASGRP1 LYST FKRP UFC1 TWNK GDF6 NEUROD2 TSFM TMEM67 SPOP CACNA1H CUX2 DPYS GPT2 LETM1 ACTL6B SCN2A ATP6V1A SQSTM1 FAM149B1 PEX19 ABCA2 TRNI ACADM APP PEX3 PANK2 TRIO GLI3 PEX13 MAN1B1 HNF4A SCN2A NPAP1 RERE TANC2 KLLN ARNT2 KDM5B SLC13A5 KIF7 SNORD116-1 SRPX2 PEX19 SEMA6B TGFBR2 OSGEP IARS1 SVBP VPS13B ENG FTO GLI2 TRAPPC12 HLCS ATIC NOTCH3 HIBCH RARS2 HIC1 ANKRD11 IFNG SURF1 ARL13B TACO1 HERC2 TRNK ZFP57 GFM2 COL4A1 SLC9A6 TBK1 STT3B MKRN3 KCNJ10 ATN1 MYO1H POLG VDR OCLN ND5 CASK PIGO FAR1 TSEN54 F8 NDUFS7 ARHGAP31 PIGH RFT1 CDON KCNQ1 SCN8A FGFR1 NEDD4L BAP1 SIX3 SERAC1 CYP27A1 GALC SMARCB1 LMNB2 PRDX1 INSR WDR11 LAMA2 KCNMA1 PHGDH TRNV QDPR ADAMTSL2 PEX14 TMEM165 FAT4 SCN2A PRODH SNORD118 ZIC2 KMT2E DHX37 TRNK TUBB3 GABRG2 NFKB2 CAV3 ALDH3A2 CNNM2 PEPD ST3GAL3 PIGQ FGF8 STAT2 SHH COL18A1 STXBP1 SON SLC25A22 GALC HMBS RET COG2 TPP1 NODAL JAK2 PCDH19 BUB1B EIF3F ERAP1 GRIA3 SMC1A CLN8 EIF2AK2 CC2D1A ADD3 MTFMT GAS1 SLC25A13 MAPK8IP3 TMEM231 ARX PRTN3 FLNA PIGN AKT2 NTRK2 RAB11B TRNF TDGF1 HTRA2 B4GAT1 VCP DYRK1A HCFC1 DNM1 BCOR FLCN NHLRC1 NAXE CTH PIGQ XK IL12A IDH2 PLK4 PLA2G6 CDKN1A HCN1 TUBB2A RORB ARL3 TBX19 CASQ2 TBCE NDUFV2 LMAN2L MTHFR GABRA1 TRNL1 GABRB3 ZEB2 RPL10 COX1 FRMPD4 ARCN1 TUBB2B NUP107 CENPJ COL13A1 ACSL4 MDH1 HSD17B4 EGF BUB3 GJA1 CACNA1B LIG4 LARP7 NTNG1 GRIK2 ANKRD11 ZBTB18 ALG11 TREX1 APP NF2 CCDC88C HUWE1 COA3 CD96 SEPSECS PSAT1 DLG4 COL4A1 TMEM237 EIF2B5 MSX2 SLC2A1 NRXN1 KCNQ2 CDKL5 TULP1 CTSA GBA SLC35A2 PIGK PQBP1 CPS1 PTS CIT ERLIN2 XPA ANKH RELN OFD1 CDK13 VARS1 SETD5 SYNGAP1 DPAGT1 PPP3CA CNTNAP2 COX7B APC2 GDF2 TRMT10A FBXO31 ALDH18A1 LAMC2 ACTL6A TBC1D24 D2HGDH PEX26 MMUT LRPPRC TRAF3IP2 GP9 KATNIP APP ALDH7A1 HCCS PIK3R2 SMARCB1 CTNNA2 PPM1B UPF3B PIGV NSDHL SLC33A1 STX1B GMPPB TRNQ RRM2B SYNJ1 GLI3 BCL11B ALG1 KIF15 TDGF1 ATR PMM2 SGSH KCNJ11 TANGO2 USP7 ARX TRNS1 MLYCD CTSA NLGN4X IL17F SCN10A SLC13A5 SHANK3 ACSF3 SLC35A2 ZNF711 PHOX2B HK1 NAGS ADPRS FLI1 ETHE1 CLCN4 TBR1 PEX19 PEX12 SETD1A CDK8 INS CC2D2A HNF1A MED12 MAP2K1 GJC2 PEX14 SYNGAP1 NFIA PAFAH1B1 PGK1 MOGS FIG4 EPM2A TBL1XR1 SMG9 SNRPN HSPD1 SLC6A8 VAMP2 FOXH1 NDUFAF5 EOGT PAFAH1B1 PHF6 FARS2 ACTA2 ND1 GPHN GPR161 NAXD NDUFS4 TRIP12 ARF1 PTEN PHOX2B SLC20A2 GUF1 SMAD4 EIF2B2 ACY1 PRNP SOX3 FMN2 WAC ADAM22 CHRNA2 PHACTR1 NTNG2 NDUFB8 SDHA FGFR2 FGF17 TRNW CARS2 WFS1 IFIH1 KRAS COA8 PSAP DHCR7 PEX1 PEX12 FBP1 AARS1 TREM2 PTCH1 MEN1 CLCNKB SLC35A1 PROK2 CKAP2L TRAPPC2L CC2D2A RAC3 AVPR2 BPTF COX10 PIK3CA UBA1 CLCN4 SAMD12 MED17 PLAGL1 ARMC9 GABRG2 ATXN10 GAS1 SMARCE1 LAMC3 GALC ERCC5 RERE LHX4 ERLIN2 TRNV HYMAI CACNA1C MKS1 ARHGEF9 SHH MEFV ACVRL1 ATP1A3 STAG2 CDON DOLK AKT1 FAM149B1 NNT CCDC88A RPE65 NFIX DEAF1 PEX2 HADHA PAH TRNF PIGL DALRD3 SATB2 PHGDH SLC12A5 PSAP PEX12 TAF1 NALCN PDE4D TRAPPC11 FA2H SDHAF1 ALDH7A1 PIGW TGFBR3 PODXL TGIF1 RAB39B COQ6 LARS2 ATN1 SMC3 RPS6KA3 LIPT2 PROKR2 MECP2 APC2 ARHGDIA GCK SMARCC2 FGFR1 ATAD3A PQBP1 PPOX EARS2 GLUL PET100 IL1RAPL1 TUBA8 TPRKB RAB3GAP1 ISCA1 GLRB TDGF1 MEIS2 GUCY1A1 KCNJ11 ASNS FARS2 PEX6 TSEN15 TRNW GLYCTK SCN9A METTL23 STRADA CERT1 ARX TGIF1 NOTCH3 WDR4 EHMT1 NOS1AP RPGRIP1L TRNK CEP120 WDR81 CNOT1 ANO10 CLCN2 MEF2C UBE2A ATP6AP1 RPGRIP1 TUBGCP6 CEP290 INTS8 CACNA1A WDR26 TMX2 DNMT3A UBTF TANGO2 CEP290 SDHB ADSL NUBPL SET MARCHF6 RARS1 CISD2 ATP5F1A DHCR24 GCM2 MFSD2A HTRA1 MID2 THSD1 SMC1A GOT2 KCNT2 HPRT1 TUBGCP4 NTRK2 SVBP ALDOB NSD1 DLL1 AP4M1 CPA6 GNB5 PUM1 CHD2 CNKSR2 PDE10A ENG TBCE TRNS2 KDM6A UNC80 CASP10 PPP3CA TUBG1 KCTD7 KIF1A TRNT POGZ FOXH1 PROK2 TRNL1 PIGP PEX11B DYNC1I2 KCNA1 NODAL HESX1 SPR MECP2 ANKRD11 CACNA1A ALX4 TBC1D23 RAB39B CIC COX10 SCN8A POMT2 LAMA2 RNU4ATAC SMARCB1 GRIN1 NDUFA2 STXBP1 BCOR HADHA ALG13 GRIN2B DNMT3A HTT KIF11 ADK MCCC2 CPS1 PCLO RAB18 PEX5 CHD2 CYP27B1 AVPR2 CPLX1 ATP6V0A2 CACNA1C NSDHL DMD GNB1 SRPX2 DPF2 STAG1 RLIM UBE3A ZFYVE26 CDK10 FKTN SCYL2 MSX2 DISP1 PEX13 GAS1 RPGRIP1L JAM3 AIMP2 TLR3 SCN11A TCTN3 CLCF1 CRADD ANKLE2 ISG15 TP53RK TCF20 IL17RA MAN1B1 UFD1 C9ORF72 GABRD FRA16E CPLANE1 TSC1 DLL1 TRMT10A TUBB4A TXNRD2 EIF2AK3 L1CAM AKT1 POLE ARID1A NACC1 NHLRC1 B3GALNT2 GABRB2 ABCC9 FBXO11 FAN1 FOXG1 PMPCB LNPK RORA RAB27A MSH2 DEGS1 HERC1 KCNA1 SYN1 SDHC CDON PTCH1 PDCD10 TBX1 PREPL MED12 TMEM67 INPP5E MYORG CHMP2B CCBE1 USP9X LRP2 PWAR1 SMARCA2 MECP2 TMTC3 SCO1 KIF5A DCC GFM1 PIK3CD ACTB PHOX2B BRAF CACNA1B ERMARD LHX4 PSMB8 VAMP1 NTRK2 DHDDS TCTN1 FCGR2A CLN6 MAPRE2 AKT3 EBP RAD21 LMNB2 GPC4 DNAJC5 ARHGAP31 CEP164 TREM2 YEATS2 CSNK2A1 TRPM6 GLI2 CPT1A SLC13A5 HIVEP2 TBCD PEX26 SCN9A WDR26 DISP1 SZT2 SIX3 FLRT3 TDP2 KATNB1 FGF8 AP4M1 PSAP GABRA5 SMARCE1 BCR POLG WDFY3 ATAD1 PRPS1 DCX GP1BA TRNS2 TK2 PIGB DNASE1 NIPBL KIF1A POU1F1 CEP41 TSEN54 PRRT2 AP4B1 ARMC9 CHD1 DDX3X SCN1A HTT SDHA DPM1 TUBB2B XPR1 IFIH1 ROGDI TK2 SYP SPG11 ND1 APP BCORL1 GPAA1 ZEB2 NODAL TUBGCP6 CLCN2 LETM1 RRM2B DNAJC6 USP9X CLDN16 MAFB BMP4 L1CAM GAMT PEX3 TBCK SLC13A5 FMR1 COX6B1 PLAA MFSD8 OCRL UBAC2 COX1 SORL1 CEP104 RAI1 NDE1 GNE NGLY1 SLC35A3 SAMD9 BUB1B HEXA EZR DDOST PIGW CRB2 PEX1 SIK1 GMPPB LAS1L DHDDS MMACHC MORC2 RERE LGI1 KCNQ3 ALMS1 AQP2 HDAC8 TRAPPC11 ALDH18A1 KCNQ2 ERCC6 JRK FKRP ASH1L TWNK PUF60 TBC1D24 TRNK RANBP2 SNTA1 CASR STT3B TYROBP ARID1B SPR FLVCR1 OCLN KRAS DOCK3 USP7 SUMF1 PROKR2 CCBE1 GCK PIK3CA STX11 DCX IRAK1 CPLANE1 ARX STAG2 PEX6 SLC6A19 SOX10 ECE1 KCNQ3 LRAT HTT POLA1 POLR3A GOSR2 MTOR PPP2CA SEC23B GJC2 TRNP SLC39A8 CLTC AMPD2 ASAH1 PIGP EML1 HYMAI ALG13 PIBF1 HMGCL HNRNPU KCNT1 NDUFA11 SLC25A12 PLA2G6 HSD17B10 SETD2 RPS6KA3 KCNB1 PPP2R1A L2HGDH CLPB TECR NDUFA12 ABCC8 CPT2 KNSTRN CBS TMEM216 CDON NDUFA4 SPTAN1 PACS1 PSEN1 NNT MAPT GUCY2D KMT2D GRIN2A NDUFB11 FRRS1L ATAD3A HAX1 NUS1 CTNNB1 MEGF10 GABBR2 AUH CKAP2L MKRN3-AS1 TCF4 SLC25A1 USP45 NOTCH1 ERCC4 AARS1 ANK3 AIFM1 LARGE1 SMPD4 HLA-DPA1 ABAT SURF1 GNAQ PTS PEX16 PTPN22 OTX2 CLPB NDUFA2 EPRS1 DPM2 COX7B THOC2 PIGN ND3 SMC1A SCN3A PEX1 AP2M1 GLB1 TRNN SUFU AIMP1 PSAP KLRC4 RHOBTB2 COG7 PCCA TSC1 USP9X KCNC1 PDCD10 PIGU SMC1A MEN1 ASCL1 NDUFAF6 HMBS CAMK2A GBA PPP1R15B FGF8 HLA-B CTU2 STAT4 SETD2 RELN ATP6V1B2 AMER1 TMEM216 MEN1 NDUFS1 BMPR1A PDGFB KIAA0753 ATP6V0A2 ZNF423 ARVCF ERCC5 AKT3 PMS1 IQSEC2 PEX16 MTFMT ALDOB PGAP2 CRB1 TMLHE GRM1 POGZ ROGDI NDUFS2 KCNJ11 EHMT1 ATP1A2 KLHL7 SCN1A ZIC2 RECQL4 RPS6KA3 KCNMA1 NDUFS8 SIM1 DLG3 LARS1 BRAT1 FUCA1 SERPINI1 CFH SLC25A20 SDHD KRIT1 COL3A1 ADAR WHCR SLC9A6 PEX26 DOCK7 TRNQ SMARCE1 LIAS ESCO2 TUSC3 SARS1 AP3B2 ATAD1 GLS CACNA1A TIMMDC1 POMT1 UBE2A MBTPS2 PSPH TBC1D24 FGFR3 OFD1 ARG1 ANOS1 SLC2A1 POMGNT1 NPRL3 MRPS22 KRIT1 FGFR1 CTSD DMXL2 EEF1A2 IL17RC FLNA DLG3 NSMF KDM6A TRIM8 ALG2 RPS6KA3 ALAD GABRA2 MTHFD1 FDFT1 DARS2 PHACTR1 CNPY3 PIK3R2 GLRA1 KCNMA1 GNAO1 GPSM2 GLI2 GLI2 VLDLR GTPBP2 IL10 COX3 SMPD1 GRIN2A POMT2 ECHS1 TRIP13 WWOX EZH2 PEX13 GABBR2 MCTP2 SCN8A FGF8 COX8A WASHC4 MAGEL2 SLC19A3 RAB18 NSUN2 DNAJC19 EP300 GLRA1 EFTUD2 NDUFB11 ENG NDUFAF6 TRAPPC4 CLP1 TUBA8 PRDM8 NDUFV1 PDE6D ZSWIM6 AP1S2 SDHAF1 GRM7 SLC19A3 HACE1 L1CAM CDH23 TDGF1 LGI4 SOX11 RUBCN HCN1 ERCC6 IL17RD CHRNA4 SMARCC2 TERT COX2 ARID1A MVK PURA CREBBP DHDDS NKX6-2 TRAPPC9 POMK EIF2B4 PEX3 CHRNA7 NEXMIF MTR SLC16A1 NANS NF2 ATP6V1B2 NADK2 DNM1 SLC19A3 GNE FAS RNASEH2A MPDZ TGIF1 OSGEP GLUD1 SMAD4 BSCL2 RNR1 HNRNPU L2HGDH NEUROD2 ARHGEF9 NLGN3 LAGE3 NEDD4L SLC25A15 FADD SLC5A7 NUS1 KCNA2 IQSEC1 AKT2 PGAP3 FIG4 PDX1 TDP2 HS6ST2 METTL23 CASQ2 TP53RK ADAT3 SMC3 POMT1 RAC1 STAG1 CUL4B STAT4 IREB2 POMGNT2 GBA PROKR2 GATA3 KLF13 GABRB2 GMPPB MEF2C KMT2C PEX1 VPS13A ALG11 AGTR2 ATP1A1 KDM6A ALDH5A1 SPRY4 SZT2 EFHC1 CUX2 TACO1 ALG13 CLN3 BCKDHA RPGRIP1L CTSF SLC6A5 KRAS TLR4 ERCC8 ETHE1 UPF3B ARV1 PEX19 XPR1 PEX3 MRM2 TRNC CACNA1E EDN3 ERCC6 MED12 SCN1B AIMP1 CTBP1 ADGRV1 IBA57 TBC1D20 TBCD CXCR4 PWRN1 ADAT3 TBX1 CENPE LAS1L MC1R MPL STX16 C4A ACSF3 TREX1 CAMKMT SLC25A22 TBX19 KANSL1 CHD8 CHD7 EDC3 PCCB TSC2 SLC9A7 SETBP1 STAMBP PEX10 VLDLR MVK IMPDH1 SLC17A5 TRAPPC11 FGFR2 TRIM71 PNKP DDX3X POLR2A RNF113A MECP2 SLC46A1 CLIC2 MAF SCN1A ALG9 KAT8 ARSA EMG1 NOTCH2NLC MED12 CDKN2B VPS11 ZC3H14 PGAP1 PEX10 STX1B ZNF81 ZC4H2 PEX5 DLD NAGA OTX2 RSRC1 GTF2H5 SCN9A PCK1 PRDM16 IDS ATP1A2 COL3A1 IKBKG GBA ITPA TRNS1 GBA CRIPT CAMK2A DPYD DOCK6 DISP1 LMAN2L IVD RNASEH2A KCNA2 TRIO NDUFA10 SLC25A22 PEX5 DCC ARX HERC1 NRAS SHANK3 MTHFR TRAF7 ECM1 CHRNB2 CNKSR2 NRAS EXT2 USP27X KCNH2 EEF1A2 CEP290 COX15 PIGO MMADHC FGFR3 MANBA SLC2A1 RALGAPA1 CLEC7A EGF WDR37 TARS1 SCN2A NSD2 FOXRED1 PTH STXBP1 FDXR POMC EXOSC9 SYNJ1 CNTN2 CAMK2B ATP1A3 NPC1 MYO5A PIGA DPAGT1 DHFR HLA-DPB1 UPB1 FTL POMK GPC1 SOX2 AUH SCN1B NFASC OCRL TMTC3 SPAST PTF1A TRAPPC6B GLS PSPH INPP5K LRP2 FBXW11 NAT8L CHRNA7 FCSK MYO5A KRAS ASXL3 RANBP2 SPATA5 LYST KIAA1109 ASPA TICAM1 MBD5 TUBB3 BTD SELENOI MED25 SNX14 SMS ATP5F1A CTLA4 ECM1 STS CXORF56 VPS11 NDUFAF4 KCNJ6 FOXH1 MECP2 GABRA2 LMBRD1 GLUD1 SYN1 STT3A NAGA PET100 ACTG1 SLC2A1 TRAK1 TRNQ TOE1 NOTCH2NLC AIP HERC2 TRAK1 CACNA1D WDR73 COL18A1 PTCH1 SCN1A EPG5 TLK2 ALG3 GAS1 BCS1L PLPBP STAG2 HIBCH TREX1 BCOR KCNJ1 TRNH FBP1 PTPN22 MRAP POMGNT1 SLC46A1 HGSNAT SLC2A1 ERCC3 FLVCR2 GM2A UFM1 CRPPA CDH23 TWIST1 GNAO1 AMT HMGCS2 FGFR1 TREM2 MIPEP NODAL NUP214 GBA ADA2 SCN3A ATP2A2 CLN6 NAGS HESX1 KMT2A GUF1 CPT2 RAC1 DISP1 ADGRG1 POU3F3 ATP6AP2 AHSG PIGM HCN1 TMEM70 NTRK2 RBM10 NDUFV1 PLCB1 PEX1 PIGG CYP2R1 NIPA1 ARID2 NRROS ST3GAL5 GDI1 PDGFRB ACADSB FASLG GABRD CFHR3 SLC6A8 PTEN PLP1 CARS2 MAP1B COX14 THPO TDGF1 AMACR PSEN1 KIF7 AQP2 MPDU1 NPHP1 GDI1 NDUFA13 NRAS CYTB PEX5 ATAD3A FGF8 PIGC STXBP1 BRAF NEU1 COQ2 POU3F4 CYB5R3 PCDH19 SCARB2 PDHA1 PRUNE1 MTHFS PSAP ERCC2 GABRB3 LARGE1 WDR73 ARX PHF21A NIPBL GABBR2 CYB5A SNORD115-1 POMK SRPX2 ACO2 PHF6 ACADS ACOX1 MBD5 SLC6A1 ATP1A3 RPL10 ZBTB20 DBT KCNB1 WDR11 MTRR PEX2 WAC STAG2 STXBP1 ARL6IP6 GNAS PSMD12 DNM1 FLI1 ADSL MYRF NDUFA1 ITGB6 HPD SLC12A6 RAB27A SON NSUN2 ABCC8 B3GALNT2 PIK3CA YEATS2 SLC17A5 ZNHIT3 CDK5 CAMTA1 DSTYK GRIK2 ATP6 ABCA5 HLA-B NARS2 CA8 MC2R RNASEH2C PLAA STXBP1 RBM8A ST3GAL3 FAM50A UGDH ATIC BCS1L TRMT1 HDAC8 TLR3 DCPS PAH GRIA3 LONP1 HADH RNU12 SC5D RPIA PNKP OFD1 TMEM231 RAPGEF2 TSC1 SURF1 ARV1 FMR1 HNF1B AP3D1 BCKDHB DHPS FA2H PEX6 ZIC2 WARS2 SC5D COQ8A PTEN SCN8A PRMT7 SLC2A3 FGFR2 ZIC2 GTPBP3 PGAP1 KCNC3 GLDC KCNJ10 CEP85L GPC3 NDUFAF3 AP3B2 PEX16 AGA PPT1 IQSEC2 PCNT CFHR1 B3GALNT2 PDSS2 PIK3R2 MFF NDN FOXP3 POMC COG5 BCKDK SOX10 DNM1L OSTM1 AKT1 DISP1 GSS TRAPPC4 RNF213 PTCH1 CRLF1 SCN2A ALDH3A2 NF1 COL1A2 GLI2 COL4A2 YWHAE NSUN2 TRRAP IL23R ALG6 BOLA3 SLC12A6 MGP SLC25A4 PRRT2 DOCK7 CTC1 DHCR7 ZMIZ1 PRRT2 XPC CLTC SNRPN DPH1 KDM6B GNAS FKTN SCN10A PRNP STT3A KCNMA1 CHAT ARX KCNQ3 TBCE GNAQ CNPY3 ALG2 SH2B1 CDC42 TASP1 FOXA2 CDH2 CYP27A1 SLC18A3 CBS LCA5 ANK3 ACAT1 KAT6B NDUFB8 RUBCN KCNA2 PROP1 PRKAG2 DHX30 RTTN CHKB CDK19 MED25 PEX10 CCND2 MVK COG4 PTPN23 ACTL6B SMS RREB1 KPTN MED25 RTTN PROP1 CEP57 B9D2 PSEN1 NEK9 YWHAG CILK1 FBLN1 TBCE MLX KMT5B ZNF592 FUCA1 CPLX1 CEP41 PIGC ZNHIT3 TBX1 PIGT ALG1 GEMIN4 CASK TUBA1A GCH1 ERMARD NIN PIK3CA GK CC2D2A CDH11 COLGALT1 EFHC1 NIPA1 PTEN PTRH2 ATM COX20 KDM5C FLNA RELA GCDH RAI1 RMND1 MED13 HRAS KAT6B POLA1 PNPO SCN2A TBP FAM111A SCN4B WDR4 PTRH2 PIGL SPP1 FKTN PEX7 TP53 ADA2 ACTL6B FAM111A CPT2 FGFR1 SLC45A1 GYS1 GATAD2B LBR ASPA KCNE1 NUP133 ERCC3 TRPV3 MED23 EPM2A PRKCD POMT1 TXN2 OTUD6B PNPLA8 ROBO3 MACF1 RAI1 SCN1B INSR CRLF1 PI4KA GNAS MYT1L HDAC8 EPCAM CRBN TP53 ATP6V1A SPATA5 KAT6A DGUOK GABRG2 IQCB1 WDR62 PSMD12 MAST1 ATP6AP2 SIN3A HLCS NEU1 UBA5 CACNB4 NAA10 SHROOM4 ATRX POLG2 MTOR PSAP SLC12A3 PIGA CLTCL1 CPT1A GABRG2 TGIF1 ARID1B PSMD12 POLG2 PIGN RAB39B UBE3A ERLIN2 GRIN1 CSPP1 ARFGEF2 FAM111A TSC2 CAD VPS51 HCCS BDNF CARS1 THOC2 PRRT2 CPT2 DHX16 GM2A SKI RPS20 NRAS SCN9A KCNA1 KCTD7 INPP5E BPTF TRNF AP4S1 FKTN NDUFS2 TFAP2A LAMB1 SSR4 COMT IFT140 INPP5E PAK3 ASAH1 DYNC1H1 FITM2 ACY1 GLA CACNA1A NOS3 BRAF PIGV ATRX KCNJ5 ATP1A2 LAMB3 PCSK1 DEPDC5 ANK1 PIEZO2 SLC25A15 NDUFS8 GABRG2 ACTB PTCH1 FGF12 CCM2 NPRL2 POMT2 UBA5 PHKA2 GABRA5 TBC1D20 GRIN2B DENND5A SNAP29 PAFAH1B1 FOXH1 TREM2 PEX6 PAX2 HADH MAPK10 MBTPS2 FLII PRRT2 ATP6V1A PHKG2 MDH2 SLC12A5 CDKL5 MED13 SMARCA4 SP110 VPS13B TCTN2 KCNK4 AP2M1 ARSA PMM2 BRAT1 CLIP1 ALPL ELMO2 ACP5 KCNQ2 POLG STAT3 PEX26 MGP TNIK SRD5A3 UNC93B1 DLL1 DYRK1A SHH SGPL1 NDUFAF3 EP300 TREX1 CLIC2 MSH6 FAR1 LSS TBCK GLI3 GRIN2A FGFR1 SIN3A SMARCA2 CCNQ BUB1 ALDH5A1 ABCC8 GLRX5 SARS1 GABRG2 ALKBH8 PC NF1 OTC POMT2 DHCR24 DNM1L ARID1B NDST1 NUP133 PEX6 POMGNT1 IQSEC2 MAPK1 MICOS13 GRIN2B SOX5 ATP6V1A COQ8A KCNJ11 ASPA SYT2 DOCK6 PIK3CA DLL1 CCR1 TRDN HIRA IER3IP1 JAM2 SARDH GMPPA HEPACAM NHLRC2 NECAP1 TGFB1 TBC1D24 MOCS2 TELO2 SSR4 FGFR3 COQ4 ADGRV1 TBK1 CTLA4 MAN1B1 KCNT1 ARX PYCR2 ERCC2 KDM5C MKS1 SH2B1 ZIC2 CDC42 TRNS1 CAMTA1 PTEN PSAP NONO DPM2 MID2 DMXL2 MICAL1 PRRT2 ACADM LINS1 ZNF41 POLG DLL4 PSAT1 UBTF ERCC8 LAGE3 SPTAN1 USP18 DDB2 BMP2 FCGR2B SIX3 CALM3 ACTL6B CYP27B1 DIAPH1 GATA4 LAMA3 KMT2E TIMM50 GMPPB MTOR CDON TMEM106B CILK1 KAT6A ALG3 TAF1 AVPR2 SLC1A3 STRADA GNAQ TTR PAK1 ABCC8 FOLR1 NUS1 RNF125 CRBN MTRR EXOSC3 COX3 MTO1 DLL1 DEAF1 FGF8 HCFC1 NDP LARGE1 MANBA MECP2 KMT2D PPP2R5D WARS2 CASK SLC44A1 NMNAT1 EFHC1 TRNL1 KCNE2 ELOVL4 JMJD1C IARS1 TRNT1 NIN FRRS1L FADD ZMIZ1 CREBBP GMPPB HECW2 DIS3L2 AGA HRAS HYLS1 BAP1 WDR45 COX2 SLC25A20 KIAA0586 SIX3 SDHA PLPBP TUBB2B MCCC1 SYNGAP1 PCDH12 EFTUD2 IRF2BPL MN1 ACTG1 SOX4 ALX4 MFF SETD5 ZNF142 ATP6 NECTIN1 SLC2A1 TWNK MGAT2 GABRD ERCC4 MOGS TOMM40 GTPBP3 TCF4 VPS53 OTX2 PEX2 SCN3A TRNK OTUD6B CCM2 MMAA GRIA2 CACNA1D PEX2 MBOAT7 AIFM1 SETBP1 ASL EPG5 SIX3 CYFIP2 FKRP GLA NDUFAF5 PEX13 SIK1 ND1 CUL4B SLC1A4 SHH SDHD CYP26C1 MECP2 ANTXR1 ABCD1 ND6 DDX6 PSAP SCN2A DEAF1 B3GLCT ATP6V1E1 ADGRG1 CPOX TRDN TWNK AKAP9 TBC1D24 DLL1 GABRB1 ARHGEF6 KCNQ2 NBAS DBH SCN1B FGFR3 TYROBP ATN1 LIPT1 FH SLC19A2 GRIN2A TRNS1 RAB39B MARCHF6 LINGO1 DUSP6 AHI1 ERMARD SPATA7 MECP2 FGFR1 PLAGL1 STAR CREBBP NDUFAF2 PDSS2 OPA1 GAL GBA MBTPS2 DALRD3 GNAS GAMT RXYLT1 GATA6 WFS1 CASK ATXN10 ND4 ALPL CDKL5 TBCE NDP GBA SUFU NF2 NAA10 ATP7A TSC1 FAS AASS TSPAN7 GJA1 GNAS MAF PSEN2 GRIN2D TBL1XR1 PROC WASF1 TCIRG1 EXTL3 CLN8 EIF2B1 ND6 PRODH BCAP31 ZDHHC9 MYO5A PUS3 ADARB1 MED12 NEU1 CDKL5 TRNH SLC3A1 CERS1 PDGFB RELN ATRX TRAPPC11 PLCB1 AUTS2 NFIX PEX12 NDUFS7 NEK1 TWNK RPL10 CHD2 RNASET2 SLC25A42 SMARCB1 SEMA3A SMARCD1 ALDH4A1 CNTNAP2 MOCS1 SLC5A6 SRPX2 ABCC8 SLC2A1 SLC1A2 TRMT1 PTCH1 ATP8A2 LMX1B ASAH1 CPLX1 NDE1 GAS1 NDUFS3 CNTNAP1 TRAPPC9 TRAF7 ROBO1 GJC2 TCF4 ERCC6 RNASEH2B FKTN PIGY NEU1 HESX1 GPT2 NEXMIF PGAP3 NDUFA9 SLC1A3 MECP2 TGIF1 CDKL5 PLA2G6 SCN1A KCNJ11 PTCHD1 TECPR2 ERCC8 OSTM1 ACVRL1 SLC1A2 POLG SAMHD1 MSL3 GP1BB PYCR2 PLK4 KPTN PCYT2 PIGY ATP7A FARSB UCP2 SALL4 CHD1 PACS1 GLI2 AHI1 CCDC141 GABRA1 PEX14 ND5 CRKL COX15 SLC12A3 LHX1 NDUFAF8 GLI3 ATP6AP2 TRNL1 PHF21A RBPJ AFG3L2 MLH1 MLC1 NALCN MC2R PNPO POLR3A DYRK1A IL12A-AS1 UQCC2 CNNM2 SIK3 SMO CDKN1B GABRA1 KIFBP SDHA DNM1L KCNH1 PAK3 KCNQ2 TCF20 SCN8A SLC25A10 FA2H TDP1 TMEM138 PARS2 IQSEC1 ADNP GNB1 NACC1 KCNN3 RDH12 SCO2 C11ORF95 CD96 NDST1 GPHN GALNT2 AP4B1 PROKR2 ADGRG1 PIGT PIGS FGFR3 KIF4A CLP1 TGDS ODC1 POMT2 SCN1A MYH14 CLPP CEP120 RSRC1 GYS2 BRAF PRSS12 AP4E1 METTL5 SIK1 TP53 TSC2 P4HTM ATP6 CSF1R TBCE ARX SLC25A1 UGP2 EBP CALM2 SIX3 ARSA EBF3 DNASE1L3 B4GAT1 SASS6 KLHL15 TMEM70 PLEKHG2 MTM1 FASTKD2 SLC6A1 CDKN2C OPHN1 DPM3 ATRX FGF12 GRIN2D DIP2B TRNF PRRT2 MYH3 KCNQ3 SLC39A8 ATP13A2 GLE1 SLC35C1 B9D1 CDON ADGRG1 RD3 OPHN1 KCNE1 TSEN2 KMT2A AMACR PDHA1 MAGEL2 TBC1D24 MAP1B SYP CLN5 NPC2 PARS2 JRK HNMT MED12L PDP1 MYT1L ZIC2 TBC1D24 MPLKIP HESX1 SLC22A5 ACOX1 GRM1 ST3GAL3 NONO DAG1 ASXL3 EXT2 HADHB EXT2 CLCN4 SPTBN4 FGFR3 GPAA1 XPNPEP3 NDUFS4 HUWE1 POLG COQ9 NAGA PRKDC GABRD TRAPPC9 ZSWIM6 GRN AIPL1 AP4S1 KCNAB2 ARX SNX14 USF3 POMGNT1 GCK NDNF ACOX1 GABRB3 NOTCH1 HDAC4 ND5 PTCH1 SCN5A FOXRED1 TRNS2 GFAP ADNP AGRN PDHX PEX16 SDHD MEFV TRNL1 CSTB ATM HADH NDUFB11 SNAP25 RAB3GAP2 SHH CTNND2 TREX1 ELP1 TWNK ASXL1 GLI2 IQSEC2 PRICKLE1 SCN2A FOXG1 ARX GATA6 SUOX PRMT7 CCDC115 KISS1R KCNJ13 FUT8 UNC80 TBX1 WAC WWOX MPC1 EIF2S3 PEX14 PPA2 PACS2 FAS AFG3L2 SLC6A19 LAMB1 ERCC2 COG6 ASXL2 ADAMTS3 PIGL CYFIP2 MMADHC SLC45A1 QARS1 DNAJC6 SCN1A YWHAG COG8 MRPL12 EIF2B3 CC2D2A BSCL2 PEX5 SIK1 SOX10 CNKSR2 TMEM237 SEMA4A SNIP1 MMACHC STARD7 SLC12A1 TECPR2 OAT KCNH1 IPW VPS13A NGLY1 PPP2R5D ASPM STUB1 SLC2A1 CACNB4 COG8 TNFRSF11A INTS1 FRG1 TNFRSF11B MCPH1 TRNW BCORL1 PEX5 SLC35A3 TET3 AKT1 ACVR1 ALG9 NSD1 WDR73 PCDH19 TRAF3 FOXP1 GNB5 ND6 WDR45 MYO9A HCN1 TACR3 EIF2S3 KCNQ5 TMEM237 FGFRL1 IL1RAPL1 ND2 POLG IVD IL12B FGFR2 CREBBP CPA6 HTT KCNMA1 NDUFAF2 VARS2 GCSH NDE1 HACE1 NADK2 ND5 AAAS CRX NTNG1 FAM126A KDM3B NODAL SAMD12 ERCC6 ARNT2 FMN2 RFT1 TAT ABCA7 TSEN54 KCNH1 CPT2 ARG1 CNTN2 IQSEC2 UGT1A1 PRRT2 TRAPPC12 HMGCL PMS2 COA8 TOE1 CLN8 STXBP1 TMEM106B MBOAT7 ZEB2 TANC2 MPDU1 GNS RNF13 ARFGEF2 GNAO1 PPP1R15B ABCC8 MSX2 TPK1 SDHB DPM1
Protein Mutations 1
A147T
HP:0100022: Abnormality of movement
Genes 3192
NR2E3 TBC1D24 SPG11 PRKRA ND4 VCP SCN1B GAD1 DNAL4 GUCY2D TXN2 COG4 PGM3 SYT2 EEF1A2 NR2F1 DKK1 POC1A GAN CRADD COL2A1 MAPT HS6ST1 GABRA1 PROM1 TRNL1 DKK1 NELFA NOVA2 SYNJ1 ATXN2 PEX11B TINF2 TDP1 CCDC141 NSD2 IFRD1 KRAS TSEN54 PRKN PTH1R ERCC1 FEZF1 ADH1C ACTA1 IKBKG MAGEL2 NEB RAD51 ERCC4 HNRNPH2 CTLA4 HINT1 COASY SEC31A ATP6 USH2A FLNC NUP62 C12ORF4 NSD1 FHL1 REEP1 UROC1 PRPS1 MYBPC1 KMT2A MSTO1 EMC1 RET TPM3 SIL1 UCHL1 GRIA4 DAG1 VCP TRIM2 SYNJ1 TRNP PUF60 SUCLA2 FKRP UFC1 TPM2 TSFM PRNP TMEM67 MARS1 SPOP CACNA1H ALDH18A1 GPT2 LETM1 POMGNT1 MYF6 SCN2A SQSTM1 ABCA2 TRNI ACADM OPA1 PANK2 MORC2 PEX13 HNF4A SCN2A RERE EYA1 FANCM THG1L AP1S2 MYOT TFG GLI2 CACNA1A NOTCH3 HIBCH SPG7 JAG1 ARL13B HERC2 GFM2 COL4A1 SLC9A6 DMXL2 GBE1 PNKD VDR ND5 SPG21 NLGN3 RFT1 CDON PRPF6 ZFYVE27 SLC18A2 BAP1 ITPR1 RPGR GALC TRPV4 LMNB2 LAMA2 PHGDH SCN2A VCP ZIC2 KMT2E GABRG2 SQSTM1 ALDH3A2 AARS2 MAP3K20 FGF8 LMNA SHH LYRM7 SLC25A22 GALC TH ABCD4 NODAL LRP12 TAZ ERAP1 GRIA3 EIF2AK2 CC2D1A CLRN1 TMEM231 NTRK2 CHRND TRNF VCP DNM1 DNM2 NAXE XK HEXB LRSAM1 RORB C19ORF12 ERBB3 CHCHD10 CYP7B1 IDH3B MTHFR GABRB3 ARCN1 ENTPD1 FXR1 ACSL4 CAV1 GJA1 CACNA1B LARP7 LAMA1 GRIK2 DDRGK1 MME PLOD1 NF2 HUWE1 SACS PSAT1 MRPS34 PRPF3 EIF2B5 PRNP HPRT1 CDKL5 TUBGCP2 GBA SGCG SYNE1 PTS KLC2 SAMD9L SYNGAP1 DPAGT1 TOR1A TPI1 NDUFS2 PEX12 SCAPER HSD17B10 FXN TRMT10A FBXO31 ALDH18A1 ACTL6A TBC1D24 RFC1 TIMM50 CTNNA2 PIGV OPA1 GMPPB ALG14 KIF15 TDGF1 PMM2 RAB3GAP2 DCAF8 ND5 ARX NLGN4X SLC13A5 ACSF3 SLC35A2 ZNF711 JPH1 MYL2 JPH3 MPV17 NT5C2 PEX12 TENM4 CDK8 POMT1 TMEM127 HNF1A TRNL2 GJC2 PEX14 MMP13 ALDH18A1 FOXH1 NDUFAF5 SLC25A11 SPTBN2 FARS2 ND1 GPHN EIF4G1 PRNP XPA FMN2 SPTBN2 CHRNA2 PDE8B TOR1A SDHA FGF17 FANCC CARS2 PSAP MEN1 MAB21L1 BSCL2 PROK2 CKAP2L CC2D2A MGME1 SQSTM1 UBA1 CRYAB CLCN4 SAMD12 HSPD1 ERCC5 DMD ELP2 PRICKLE1 MAOA SPG11 TARDBP LIFR PMP2 DNAJB6 AKT1 PRX ND4L PAH TRNF PIGL SATB2 DLST THAP1 SQSTM1 NALCN FA2H SDHAF1 SLC33A1 TTN RAB39B ATN1 PROKR2 APC2 UGT1A1 PPOX PNP SLC52A3 GLUL MPZ TUBA8 ASCC1 ISCA1 GLRB ASNS KIF1C GLYCTK COL6A3 SCN9A DDHD1 TRNL1 CERT1 ARX RHO TBP ACER3 RPGRIP1L TRNK CEP120 SLC30A9 WDR81 PMP22 CLCN2 MEF2C APTX LMNB1 INTS8 CACNA1A TMX2 CEP152 UBTF EPAS1 TANGO2 NUBPL LARGE1 OFD1 HTRA1 CAPN1 GOT2 HPRT1 SVBP GAN DLL1 MPZ CHD2 PDE10A CENPJ TRNS2 UNC80 PPP3CA KIF1A POGZ PIGP TTI2 DYNC1I2 PNPLA6 NRXN1 KCNA1 NODAL MECP2 CACNA1A PREPL RAB39B GRIN1 STXBP1 HADHA ALG13 GRIN2B SNCA ARL2BP HTT PCLO CHD2 DMD TTN RLIM CSTB UBE3A TMEM43 ZFYVE26 FKTN DISP1 JAM3 NEFL TCTN3 SCN4A PMP22 TCF20 LARGE1 UCHL1 MAN1B1 C9ORF72 CPLANE1 DLL1 TUBB4A LRP4 EIF2AK3 NHLRC1 GABRB2 FAN1 DAB1 FOXG1 PMPCB PDYN LNPK RORA DHH GNB4 HERC1 ITPR1 ADAR MAG CHMP2B LIFR USP9X ELOVL5 PMP22 SLC5A7 ATCAY GLRX5 PPP2R2B PIK3CD BRAF CACNA1B VAMP1 NTRK2 TCTN1 ECHS1 SCN4A TREM2 GLI2 TBCD PEX26 WDR26 HK1 POLG TGFB2 FGF8 PSAP GABRA5 GRN PSEN1 POLG WDFY3 DNAJB6 PRPS1 DCX TK2 KIF1A CEP41 AP4B1 ARMC9 DDX3X MAT1A SCN1A TULP1 SDHA IFIH1 KIF1C ATXN1 ND1 BCORL1 GPAA1 PLEKHG5 NEK1 IFIH1 RRM2B DNAJC6 COA7 ND5 FXN STAC3 ITM2B APP GAMT PEX3 CIZ1 FBXO7 LMOD3 COL2A1 PLAA RETREG1 ORAI1 OCRL RETREG1 COX1 PRNP SORL1 CEP104 LMNA RAI1 GNE NGLY1 DDOST SIK1 GUCA1B DHDDS MORC2 KCNQ3 TRAPPC11 ALDH18A1 CHP1 POMT1 PUF60 TBC1D24 RANBP2 KIAA1549 TYROBP SPR GDAP1 DOCK3 SURF1 GCK CYTB SLC6A9 STAG2 PEX6 KCNQ3 MMP13 POLR3A SLC39A8 ASAH1 PIGP SLC25A12 SPART CLPB PRPH2 ZMPSTE24 ALG14 NKX2-1 NDUFA4 SPTAN1 MAPT CTBP1 TWNK FRRS1L PEX11B CKAP2L CASR TCF4 ERCC5 AIFM1 ADCY5 LARGE1 SURF1 PTS SELENON CLPB EPRS1 COL12A1 DPM2 PIGN ND3 SMC1A SQSTM1 IDH1 AP2M1 B4GALNT1 AIMP1 KLRC4 VPS37A COG7 C9ORF72 USP9X KCNC1 ATP13A2 SMC1A NDUFAF6 TRPV4 CAMK2A FGF8 TKT SETD2 PNPLA2 ARHGEF18 GARS1 COX6A1 BMPR1A KIAA0753 TNNT1 GCH1 PMS1 PEX16 NDUFS2 BRAT1 FUCA1 ADAR ALS2 GJB1 ANO10 SMARCE1 TUSC3 PLEKHG5 POMT1 PODXL ATL1 FAM161A SLC2A1 ABCB7 DMXL2 SAR1B TPM2 NSMF NAA10 ALDH18A1 ALG2 RPS6KA3 WDR62 DCC EGR2 KIZ DARS2 LDB3 KCNMA1 ERCC2 GNAO1 ABCB7 LRRK2 IL10 GJB1 OFD1 WWOX GABBR2 CLCNKA FGF8 SLC34A3 CHCHD10 RAB18 EP300 GLRA1 MTPAP DNA2 DNMT1 VAC14 PRDM8 NDUFV1 CEP152 IMPG2 SDHAF1 GRM7 SLC19A3 HACE1 SBF1 HK1 TDGF1 LGI4 SLC25A19 HCN1 TERT ADCY6 DHDDS NKX6-2 EIF2B4 GNA11 RFC1 MTR NF2 DNM1 SLC19A3 RNASEH2A UBA5 TGIF1 ALG2 RNR1 BBS1 GTF2IRD1 CACNA1A LAMB2 SLC25A15 COL10A1 PGAP3 SLC39A4 POMT1 FKRP CUL4B SLC29A3 IREB2 POMGNT2 GBA COL6A2 GABRB2 MEF2C SCN4A VPS13A DCAF17 POPDC3 EFHC1 CUX2 CTSF SLC6A5 COL12A1 AIFM1 TLR4 ARV1 PEX3 HSPB8 NOP56 ADGRV1 NEB CXCR4 DOCK3 DMD C4A SYNE1 IFT88 CCT5 NDUFA13 FMR1 PCCB PRPF8 LAMP2 ACSL4 VLDLR NKX2-1 TRAPPC11 GMPPB TUBB4A PNKP AR DDX3X RRM2B RNF113A SCN1A DDC ALG9 ARSA ACAT2 NOTCH2NLC MED12 MYL1 FLNC COL9A2 MRE11 POMT2 STX1B ZNF81 ZC4H2 GTF2H5 SBF2 PRDM16 ASPM TH COL6A2 ITPA CYP2R1 TRPV4 GBA LMAN2L PMPCA DKC1 KCNA2 DCC ISCA2 HERC1 SHANK3 MTHFR UQCRQ ECM1 CLCN2 LIMK1 ARL6IP1 CNKSR2 NRAS EXT2 USP27X SASS6 GBA2 KNL1 FANCI SLC30A10 HSPB3 TARS1 NSD2 STXBP1 FDXR SYNJ1 CNTN2 SPG7 CAMK2B NPC1 DHFR SYNE2 HNRNPDL AP5Z1 POMK ATP6AP2 SCN1B DNAJC6 SPAST POMT2 MPZ FBXW11 PMPCA ASPA SELENOI SNX14 SMS ERCC6 PINK1 CFL2 CXORF56 MCM3AP FOXH1 TRAK1 TRNQ NOTCH2NLC TRAK1 CACNA1D RARS1 TTBK2 TLK2 GAS1 AUTS2 TRNH POMGNT1 SLC2A1 ERCC3 IDUA FLVCR2 HSD17B4 GM2A UFM1 TWIST1 GNAO1 AMT COL12A1 NUP214 RPE65 ADA2 RTEL1 SCN4A CHRNB1 HESX1 GUF1 DISP1 ADGRG1 ATP6AP2 RBM10 LARGE1 PEX1 CYP2R1 NIPA1 PTCHD1 ST3GAL5 ACTA1 ROM1 MPV17 SLC6A17 CARS2 MAP1B PSEN1 PEX5 C12ORF65 FGF8 NEU1 COQ2 POU3F4 CYB5R3 SCARB2 REEP2 PRUNE1 PSAP VAMP1 TPP1 ITGB3 MDH2 CA4 GABBR2 TARDBP RP9 ACO2 ACOX1 LRRK2 SLC6A1 ZBTB20 WDR11 PEX2 WDR81 GNAS PLEC ADSL NF1 PIK3CA YEATS2 SLC17A5 CDK5 CAMTA1 SFXN4 CA8 PLAA UGDH BCS1L DCPS PAH GRIA3 RNU12 HTRA1 LMNA RYR1 PALB2 SURF1 FMR1 KBTBD13 AP3D1 DHPS DCTN1 PEX6 VWA3B TPM2 ANKLE2 ZIC2 SNRNP200 PTEN PLP1 SLC2A3 TAF2 KCNC3 GLDC KCNJ10 CACNA1A TTC8 BEAN1 FHL1 MAPT FANCB KIF14 UCHL1 MYH7 TRAPPC4 RAB7A PTCH1 LEMD3 TPM3 STUB1 MYPN TRPV4 ATP1A3 SLC12A6 PARK7 SLC25A4 DOCK7 KCNMA1 CHAT TUBB4A MAN2B1 TUB TMEM240 CDH2 CYP27A1 SLC18A3 ACAT1 RUBCN KCNA2 DHX30 CHRNE RTTN CRPPA GPR88 MED25 ACBD5 ACTL6B SMS KPTN MED25 ANO5 DES CEP41 PIGC RNASEH1 CNTN1 GEMIN4 PCBD1 ADCY5 GCH1 SPG11 ZNF408 MFN2 MAPT IBA57 ATM DLAT KDM5C GCDH STAG2 MED13 NUP88 MCPH1 TTC19 MRPS16 PNPO SCN2A TBP GLB1 PIGL DCC SOD1 FKTN SIGMAR1 ADA2 ACTL6B FGFR1 BRIP1 GATAD2B SLC25A46 ASPA ERCC3 MED23 EPM2A DYNC1H1 ATCAY ATL1 PNPLA8 ABHD5 RAI1 HIKESHI PEX10 STIM1 PI4KA MYT1L ARID2 SPATA5 KAT6A COL10A1 DGUOK PRNP MATR3 SACS CHRND NEU1 POLG2 BCAT2 PSAP ATP8A2 PIGA SQSTM1 ACTA1 GAA RAB39B ERLIN2 GRIN1 CSPP1 NDRG1 NEFL GDF6 FKTN DES UBE2T MUSK HMGA2 THOC2 PRRT2 GM2A SKI ACTA1 ANO3 SCN9A TFG INPP5E ANO3 BPTF SDHA INPP5E ASAH1 OTOG CACNA1A MYH3 ATRX DYM ATP1A2 SETX PRPF31 FKRP MBTPS1 PIEZO2 WDR48 MAPT NDUFS8 POMT2 GRIN2B DENND5A SNAP29 FOXH1 TREM2 KIF1A ORAI1 PEX6 MAPK10 FLII PRRT2 MME NRL PDE6G ATP6V1A RBP3 MDH2 CDKL5 TCTN2 ITPR1 FANCA ARSA PMM2 COX3 BSCL2 FUS POLG UNC93B1 DLL1 DYRK1A OPA3 LGI4 SHH DYSF PRX DRD3 COQ2 EP300 MPZ CLIC2 ITGA7 GARS1 ABCC8 CACNA1G ALKBH8 MAK LIPT1 POMGNT1 SGCA MICOS13 MYOT GRIN2B SOX5 COQ8A BIN1 DYSF PDYN ATP13A2 MFN2 IER3IP1 SARDH GSN GMPPA SLC52A2 BEAN1 TELO2 DYM RTN2 KIF5A TBK1 ERCC2 KDM5C HTRA2 TTI2 ZIC2 LMNA KIF1A CAMTA1 NONO MID2 LINS1 UBTF ERCC8 GJB2 ACTL6B PDE6B SLITRK1 TIMM50 EED KLC2 STRADA TTR SLC9A1 LRP4 BVES C8ORF37 ITPR1 QRICH1 PNPT1 CRBN MTRR EXOSC3 MTO1 GDAP1 SLX4 DLL1 LARGE1 PPP2R5D WARS2 RYR1 VCP KLHL41 ARHGEF2 ZMIZ1 CREBBP HECW2 SETX SGCD BAP1 WDR45 COX2 KIAA0586 GTF2I MCCC1 NEFL PCDH12 DCTN1 IRF2BPL PDK3 CRPPA ATXN8 COX1 KLHL41 ZNF142 ATP6 LAMB2 ERCC4 TCF4 MATN3 SCN3A OTUD6B APTX VPS33A RPE65 MBOAT7 RLBP1 EPG5 POLR1C ACTA1 SEPTIN9 SLC1A4 ADSS1 GMPPB SDHD PSAP DEAF1 ATL3 TRNE ATXN2 MYORG CDHR1 SLC33A1 SLC20A2 TWNK DNM2 KCNQ2 EXT2 ABCC6 BSCL2 TYROBP LIPT1 KLHL40 YY1 MICU1 HSPB1 DUSP6 AHI1 MECP2 FGFR1 CREBBP OPA1 LDB3 GBA DALRD3 PRDM5 RXYLT1 CASK ND4 ALPL CDKL5 NDP GBA ND1 CTDP1 NDUFA9 ATP7A DEAF1 TSPAN7 GJA1 GNAS EXTL3 EIF2B1 PRODH BCAP31 MYO5A MYOD1 EIF4G1 BIN1 TRAPPC11 DNAJC3 PLCB1 NDUFS7 DNAJB2 SMARCB1 SEMA3A CD109 ACTN2 ZC4H2 PCGF2 CHRND KCTD17 C19ORF12 PTCH1 ADAR SYNE1 CHRNA1 COL2A1 CNTNAP1 TRAPPC9 RSPRY1 ERCC6 RNASEH2B GBE1 NEU1 GP1BA MYH7 NDUFA9 MECP2 CDKL5 PLA2G6 CAPN3 PARK7 PGAP1 GCLC SLC1A2 POMT1 DMD MAFB POLG PSEN1 HSPB1 MSL3 FGF14 PCYT2 SALL4 YME1L1 PACS1 AHI1 FUZ RAD51 GABRA1 ND5 CRKL COX15 ATP6AP2 AR KCNA1 AFG3L2 TRMT5 NALCN GIGYF2 GFPT1 IL12A-AS1 L1CAM ADCY5 OXR1 GABRA1 PFN1 DDHD2 IFT172 SLC25A10 FA2H PARS2 FKRP NACC1 C11ORF95 NOG TBR1 GPHN KCND3 MCOLN1 AP4B1 SLC52A3 ADGRG1 FANCF FAM126A CLP1 SCN1A MYH14 IARS2 BAZ1B AP4E1 DYNC1H1 VPS13C SNAP25 ATP6 CSF1R UGP2 DCTN1 SIX3 ARSA FKRP EBF3 DNASE1L3 TMEM70 FASTKD2 SLC6A3 KIAA0586 OPHN1 ATRX FGF12 PRRT2 KCNQ3 SLC39A8 ERCC3 KMT2A TBC1D24 DNM2 INF2 SGCE HNMT KMT2B PDP1 MYT1L WNT1 DCAF17 ALDH18A1 MPLKIP FXR1 ST3GAL3 ITPR1 OGDH DAG1 ASXL3 HADHB COL6A2 AMPD2 SNCA VPS35 GPAA1 NDUFS4 ACTA1 GABRD BRCA1 GRN AP4S1 SNX14 SLC18A2 ENTPD1 NDNF ACOX1 FOXRED1 KIF5A VCP LARS2 ADNP AGRN PDHX MEFV ATM DMD TREX1 ELP1 TWNK PNP CRX PRKAR1B SUOX CTDP1 KISS1R METTL5 EIF2S3 FAS PDXK SLC6A19 ERCC2 CYFIP2 SLC45A1 ATL1 DNAJC6 SCN1A YWHAG TRAPPC14 COG8 SAMD9L KCNK9 HSPG2 RAI1 PLA2G6 MICU1 CC2D2A BSCL2 KDM1A SIK1 GIGYF2 CNKSR2 SEMA4A TECPR2 VPS13A PIEZO2 STUB1 KCNA1 CACNB4 ATXN2 BCORL1 AKT1 PMP22 CPT1C NSD1 LTBP4 TRAF3 ND6 WDR45 ATXN1 DNAL4 TACR3 TMEM237 CFAP43 ND2 POLG HTT KCNMA1 CWF19L1 NADK2 FOXP1 NODAL SAMD12 ATP6 RGR EGR2 SIGMAR1 ABCA7 TSEN54 RNF170 VHL UGT1A1 MFN2 GPR101 SGCA PMS2 MCCC2 IFT140 CLN8 STXBP1 TMEM106B ARL6IP1 MBOAT7 CRYAB GNAO1 PPP1R15B SDHB PRDM8 SLC1A4 GPHN RNASEH2C PEX1 CAPN1 MAPT TRIT1 ND2 POMT1 FOXG1 PRNP NTRK1 GJB1 PNKP GNE MARS2 ADRA2B EGR2 NDUFS1 C12ORF4 RET SUCLA2 WWOX GFPT1 C19ORF12 CHN1 TONSL TMEM43 AP4E1 PEX11B COL6A1 FKRP THRA DBH FRMPD4 WWOX FBXL4 ATP5F1D TRPC3 FTSJ1 CACNA1S FOXH1 LINS1 GDAP2 GTF2E2 PEX10 CDK19 POLG HSPB1 KCNJ6 MLH3 NECAP1 GCDH PIGG PLA2G6 FANCL LAMA2 WDR45 COL9A2 MCCC1 ND2 SDHB TMEM67 ARX PAX7 EFHC1 JAM2 ARSA TIMM8A KIF1A CD59 DHTKD1 LYST TKT TWNK NEUROD2 CUX2 DPYS ACTL6B FAM149B1 PEX19 PEX3 TANC2 KDM5B COL6A1 SLC13A5 USP8 RYR1 SLC2A1 PEX19 SEMA6B TGFBR2 ELOVL4 SVBP RNASEH1 TRAPPC12 ATXN8OS RARS2 SURF1 RRM2B MPZ VANGL1 MECP2 LMNA RAB3GAP1 GNPTAB DRD5 FANCG ATN1 POLG OCLN CASK SMN1 TMEM240 NDUFS7 IDH2 MERTK SIX3 SERAC1 CYP27A1 DST SMARCB1 PRDX1 TOR1A TRNV QDPR CIT SNORD118 RIC1 ALDH18A1 TRNK CNNM2 ST3GAL3 POLR1D NTN1 TTPA MYOT CACNA1G STXBP1 TPP1 RRM2B SLC25A21 MYH14 ADD3 MTFMT GAS1 ATP6 STAC3 TRIP4 CIITA SLC25A13 MAPK8IP3 ARX RAB11B HTRA2 COL2A1 DYRK1A HCFC1 FLCN PLD3 CHRNG NHLRC1 CTH PIGQ IL12A SGCB HCN1 ARL3 GSX2 NDUFV2 COQ2 RPL10 CCN6 FRMPD4 TUBB2B MFN2 NCAPD3 REEP1 COL13A1 PEX7 PDE10A SOD1 NTNG1 APOB AIFM1 ALG11 ARL3 APP COL6A1 TGFB3 SDHAF2 SEPSECS SLC39A13 COL4A1 POLR3B RDH12 TMEM237 SLC2A1 NRXN1 GLUD2 KCNQ2 SPTBN2 IGHMBP2 ABCB6 PQBP1 HINT1 CIT ERLIN2 DOK7 XPA OFD1 VARS1 IGHMBP2 PPP3CA CNTNAP2 SNCA SYNJ1 CYP2U1 COMP TBK1 SNCA MMUT LRPPRC KATNIP FANCD2 GBA PDGFRB UPF3B TRNQ RRM2B SCN9A RFC2 PRCD SLC7A14 PRKCG HSPB8 TANGO2 USP7 VCP HK1 NAGS ADPRS FLI1 ETHE1 PYCR2 ABHD12 SYNGAP1 EPM2A SMG9 SNRPN HSPD1 SLC6A8 REEP1 VAMP2 MGME1 DYSF DYSF VPS13C SCO2 NAXD NDUFS4 DMXL2 DCPS GUF1 DPAGT1 EIF2B2 MTTP PNPT1 PHACTR1 NTNG2 NDUFB8 TFG WFS1 IFIH1 AARS1 ADCY6 TREM2 PIK3R5 SLC35A1 CLCNKB COLQ AGBL5 TRAPPC2L PIK3CA WARS1 MED17 ATXN10 GAS1 GALC POLR3B PRRT2 ERLIN2 KBTBD13 KCTD17 AGTPBP1 MKS1 POLR1C ATP1A3 PRKRA CCDC88A DEAF1 PEX2 DNA2 ATP2B3 DALRD3 COL6A3 CRAT PSAP TRNS1 PEX12 ITGA2B TAF1 PMP22 POMT2 TRAPPC11 ALDH7A1 CPT1C PIGW PODXL TGIF1 SPAST CLCN7 LAMP2 NOP56 COL6A1 LIPT2 MECP2 NTN1 ATAD3A EARS2 PET100 MAPT TERT TDGF1 CERKL FARS2 TSEN15 TRNW METTL23 CDK5RAP2 TGIF1 NOTCH3 EHMT1 SMN2 INPP5E COMP ANO10 SDHB PNPLA6 IDUA WDR26 NOL3 PHYH MARCHF6 RARS1 MFSD2A SGCE PMP22 POLR3A PRPS1 NTRK2 FGFR1 TCTN2 SLC39A14 RMRP AP4M1 PUM1 MPZ GP1BB UFSP2 TRNT TRNL1 SPR DNAJC13 TBC1D23 COX10 PRPF4 SCN8A RP2 NEB C12ORF65 POMT2 LAMA2 MECR TOPORS MCOLN1 MLXIPL MYH7 CHMP1A MCCC2 PEX5 CYP27B1 ND1 CPLX1 DARS1 RYR1 SLC16A2 CHST3 BBS2 ERCC8 CEP135 CDK10 TSHR SCYL2 PEX13 GAS1 RPGRIP1L LRRK2 AIMP2 NKX6-2 C12ORF65 TNFSF11 GABRD TRIM32 FHL1 GRID2 APC GMPPB MMP2 NACC1 B3GALNT2 MSH2 DEGS1 KCNA1 CDON SLC52A2 DAG1 TMEM63A MED12 TMEM67 CPLANE1 INPP5E TELO2 TRIM32 TNNT1 MATR3 CHMP2B MECP2 REEP6 KIF5A RLIM GFM1 PLP1 ERMARD POMT1 COASY MPZ PSMB8 SAG FANCE TAF13 PMP22 DNAJC5 CP YEATS2 ARL6 AIP CPT1A MARS1 TMEM107 MICOS13 ALG2 FMR1 BAG3 DISP1 REEP2 SZT2 FLRT3 SIGMAR1 SLC18A3 KATNB1 AP4M1 PRKCG BCR ATAD1 TRNS2 PIGB POMT1 TSEN54 PRRT2 PARN CHD1 HTT DPM1 XPR1 TOP3A TK2 SYP CYTB SPG11 MYH7 GNE ZEB2 LETM1 CACNA1G GBA2 TTN PDE10A SPG11 MAFB ATXN3 MTPAP TBCK UBA1 SLC13A5 PANK2 UBAC2 MTMR14 NAGLU OPA3 MAPT EZR PEX1 DGUOK MMACHC KCNQ2 ERCC6 JRK FKRP TWNK OPA3 TRNK RUSC2 FLVCR1 KRAS ABCA1 TSPYL1 GGT1 WNT3A CPLANE1 AAAS SLC6A19 SOX10 PEX6 TGM6 HTT GOSR2 BIN1 GJC2 TRNP CLTC AMPD2 PIBF1 HMGCL KCNT1 PLA2G6 HSD17B10 RPS6KA3 KCNB1 PPP2R1A FTL TECR L1CAM NDUFA12 SDHD TTN KNSTRN TMEM216 CDON MTM1 FHL1 PSEN1 FLRT1 NKX2-1 DHDDS ATAD3A GFM2 STN1 MEGF10 GABBR2 DNAJC12 AUH SLC25A1 ERCC4 TIA1 AARS1 ABAT CNTNAP1 CNGA1 PEX16 TPM2 NDUFA2 HPGD ZC4H2 THOC2 SCN3A CHCHD2 GLB1 ACTA1 DDHD2 PSAP RHOBTB2 PCCA TRPV4 SH3TC2 BSND SLC25A1 PINK1 HMBS PPP1R15B B4GALNT1 TCIRG1 VAMP1 NDUFS1 PDGFB ERCC5 ATRX IQSEC2 MTFMT PGAP2 DNM2 GRM1 DNMT1 FKRP GRM1 FUS POLG ATP1A2 FH NDUFS8 SIM1 CD28 SERPINI1 SDHD WHCR MMP13 ND4L SLC9A6 PEX26 LIAS KY AP3B2 ATAD1 SPEG CACNA1A SGCD OFD1 ARG1 ANOS1 POMGNT1 PLEKHG4 EEF1A2 TKFC KCND3 TCAP ATXN3 PRPS1 MYF5 DLG3 TRIM8 HPCA FIG4 CEP63 FBN1 GABRA2 GALT PPM1D CRPPA CNPY3 GLRA1 VLDLR GTPBP2 COX3 VCP TRIO BICD2 PEX10 TAF1 ATP13A2 ECHS1 THAP1 SCN8A WASHC4 SLC19A3 NSUN2 DNAJC19 NDUFAF6 ATP6 ND6 CLP1 NDUFS3 TUBA8 DPM3 PDE6D AP1S2 ATXN3 SCYL1 RUBCN YY1 ERCC6 SYT14 IL17RD SLC30A10 RTN2 PURA SDHC GBA OPTN POMK CRB1 NEXMIF NADK2 AGRN AFG3L2 PANK2 BSCL2 L2HGDH NEUROD2 NLGN3 LPIN1 KLHL7 SLC5A7 NUS1 KCNA2 IQSEC1 MAX RAPSN ADAT3 RAC1 STAT4 ATXN8OS FBN1 TCOF1 NDUFS2 PEX1 AGTR2 NT5C2 ALDH5A1 MAD2L2 SPRY4 SZT2 TACO1 ALG13 CLN3 RPGRIP1L COL6A2 FDX2 RFWD3 HGSNAT ERCC8 NDUFA12 MRM2 CACNA1E STUB1 IDH3A SCN1B AIMP1 CTBP1 GATAD2B AK9 TBCD BRCA2 TBX1 ATXN8OS STX16 ERCC1 ERLIN1 SMPD1 PDE8B CHD7 ELN EDC3 SLC9A7 STAMBP MMUT DRD2 LMOD3 ELP1 ERLIN2 MECP2 SLC46A1 TBL2 KARS1 SPTLC1 AIFM1 ZC3H14 DMPK PEX5 DLD NAGA KDM5B EEF2 DISP1 HARS1 ATP7A CA8 OPA3 SNX10 RNASEH2A TRIO NDUFA10 SLC25A22 POLG BICD2 COL2A1 ERCC6 SYT1 COX15 PIGO MMADHC SLC2A1 EGF SCN2A EMC1 TGFB1 FOXRED1 VPS13D EXOSC9 TRNE ATP1A3 EXT1 PIGA MAP3K20 VAMP1 FBXO38 UPB1 MFN2 SYNE1 MUSK ACTB AUH EMD GJB6 KCNC3 NFASC OCRL PTF1A AFF2 TRAPPC6B CHCHD10 FUS INPP5K NAT8L FCSK MYO5A HPRT1 PDE6A ASXL3 LYST TICAM1 MBD5 TUBB3 MAG PDGFB HPCA ATXN8 CHRNB1 RYR1 NDUFAF4 KCNJ6 MECP2 GABRA2 NAGA SLC2A1 TOE1 SLC25A4 FKRP NOTCH2NLC CSF1R SCN1A BCS1L PLPBP HIBCH TREX1 NEB DNMT3A SLC46A1 COL6A3 CRPPA CDH23 RNF113A TREM2 NODAL CHRNE COL13A1 CLN6 RAC1 POU3F3 PITX3 NTRK2 NDUFV1 COL12A1 PLCB1 PIGG VHL ACTA1 COL4A1 SLC6A8 PLP1 CACNB4 TDGF1 AMACR KIF7 NPHP1 GDI1 NDUFA13 SELENOI RP1 STXBP1 GNAL DDX6 PCDH19 PDHA1 VCP HSPD1 NR4A2 SNAP29 ERCC2 FHL1 GABRB3 ACAN HARS1 WDR73 MATN3 HTRA2 ITGA2 CYB5A SRPX2 ATP1A3 TPM3 TTBK2 MTRR PGM3 STAG2 STXBP1 DNM1 NDUFA1 SCN4A NSUN2 B3GALNT2 ZNHIT3 GLRB SIL1 VPS37A DSTYK GRIK2 HLA-B NARS2 RNASEH2C STXBP1 ST3GAL3 TLR3 CAPN3 SC5D PNKP RFX5 RAPGEF2 ARV1 SDHD TRNW FA2H BSCL2 PEX2 TNFRSF1B TIMM8A WARS2 COQ8A SCN8A CHRND PGAP1 PSAP PIK3R5 CEP85L NDUFAF3 AP3B2 AGA PPT1 TIA1 B3GALNT2 MFF KYNU ALDH6A1 COG5 TRMU MYH2 SOX10 DNM1L KCNJ18 OSTM1 GDAP1 PHC1 GSS CYP2U1 GLI2 SLC6A3 COL9A3 ATP7B IL23R ALG6 BOLA3 SETX PRRT2 CTC1 PRRT2 XPC CHD4 ND6 FKTN REEP1 POLR3A SPEG PRNP TOR1A ARX GNAQ LRP5 PHYH SPTBN2 ERLIN1 DSTYK COL12A1 NEK2 ACTA1 KIF1A SCN4A SMN1 CACNA1A CHKB CDK19 SMN1 PEX10 COL6A3 RTTN ABCA4 ND4 FKTN LRAT ATP5MD RAD51C PSEN1 YWHAG CILK1 FBLN1 FARS2 PKDCC CPLX1 ZNHIT3 PIGT ALG1 CASK RFXAP LITAF EFHC1 NIPA1 SPG7 ZSWIM6 PEX3 RELA KLHL41 RAI1 RMND1 AP1S2 ELOVL5 MATN3 DHX38 SPG21 WDR4 PTRH2 REPS1 MARS2 KANK1 LBR AR TXN2 OTUD6B SLC18A3 LRAT FLNA TK2 FLNC MACF1 SLCO2A1 SCN1B TGM6 PRDM5 GNAS COL2A1 EPCAM PEX6 GABRG2 WDR62 MAST1 ATP6AP2 RNF168 NKX2-1 UBA5 CACNB4 ATP2B3 ATP8 GABRG2 DDHD1 TGIF1 PSMD12 PIGN NEK9 KIF1B TSC2 WIPI2 SUCLG1 CAD VPS51 CARS1 DHX16 SCP2 RPS20 KCNA1 KCTD7 ALS2 TRNF AP4S1 NDUFS2 OPA1 DYNC1H1 FITM2 NEB GLA COL6A3 TRPV4 PIGV ZFR TPM2 SLC25A15 PTCH1 FGF12 UBA5 CCDC28B TGFB1 VAPB RYR1 RNASEH2B SLC12A5 GCH1 CEP126 FAT2 XRCC4 KCNK4 AP2M1 NEFH BRAT1 CLIP1 ATXN3 ACP5 KCNQ2 TRNN TNIK HNRNPA2B1 PNPLA6 NDUFAF3 RP1L1 TREX1 DNMT1 HSPG2 MSH6 ALS2 FAR1 TBCK FGFR1 EYS PDE10A ARL6 ITM2B AHI1 GLRX5 ATP7B SARS1 ALS2 GABRG2 PC DNM1L SELENON IQSEC2 MAPK1 PABPN1 TPP1 ATP6V1A SYT2 ACTB BCAP31 PIK3CA DLL1 CCR1 SAR1B COQ2 FSCN2 ATP13A2 RAD51 PGK1 NHLRC2 TBC1D24 MOCS2 CFL2 PRPH UROC1 MAN1B1 ARX PYCR2 MKS1 NLGN4X KCNA4 CHST3 TRNS1 CHRNA1 PSAP TBP PRRT2 ZNF41 AIFM1 GBA2 SPTAN1 NUP62 DDB2 FTL SIX3 CYP27B1 ADAR MTOR ALS2 TMEM106B KAT6A ALG3 TAF1 SCN8A SYT1 PAK1 LYST NUS1 RNF125 C9ORF72 KY DEAF1 HCFC1 WASHC5 MECP2 ELN MAPT SMARCAL1 SLC44A1 TRNL1 KIF1B FRRS1L GMPPB HRAS HYLS1 SIX3 SDHA KNL1 PLPBP SYNGAP1 PCARE MFF PMP22 SLC2A1 TWNK VDR MGAT2 GABRD TAF1 VPS35 KLHL41 TOMM40 TIA1 GALC DOK7 COMP TRNK ZNF469 FUS MMAA GRIA2 CACNA1D PEX2 LMNA CYFIP2 NDUFAF5 SIK1 CUL4B SHH CHD3 SEMA4A MECP2 ND6 DDX6 ERCC1 TSEN34 SLC2A1 LMNB1 HLA-DQB1 ATP1A3 TSPYL1 IDUA TBC1D24 PMP22 ATXN7 ARHGEF6 MSTO1 SCARB2 PRPS1 ZNF513 ATN1 CHMP2B GRIN2A MYOT TRNS1 RAB39B MARCHF6 MFSD2A SCYL1 SETX TBX4 SPATA7 MAPT GABRA3 COX3 GAMT C9ORF72 ATXN10 PRSS12 SUFU TSC1 GDAP1 FBLN5 INPP5K FLVCR1 SLC6A17 UBAP1 PSEN2 GRIN2D PROC GNAL WASF1 CP UBQLN2 IBA57 PAX1 PUS3 CCT5 PYROXD1 NEU1 NEFH CDKL5 TRNH CDK6 SMN1 CERS1 ATRX AUTS2 PEX12 TBK1 TWNK RNASET2 ADAMTS13 MRE11 SLC25A42 VAPB CNTNAP2 MOCS1 SLC5A6 XRCC1 SLC2A1 SLC1A2 CCN6 TRMT1 MME ATP8A2 LMX1B ASAH1 CPLX1 CNGB1 EMD NDE1 NDUFS3 ELOVL4 CHRNA1 TRAF7 PNKP GJC2 TCF4 TRPC3 FKTN GPT2 NEXMIF PGAP3 TYMP PTCHD1 TECPR2 ERCC8 PDK3 TAF2 SAMHD1 FBXO7 PYCR2 KPTN MAPT PIGY SNCAIP CWF19L1 CCDC141 MED25 FN1 PEX14 SCN9A TRNL1 AFG3L2 MLH1 GMPPA SPART ADSS1 PNPO POLR3A DYRK1A HDC PAM16 SMO CHRNG STIL SDHA DNM1L PPP2R2B ARSI PAK3 KCNQ2 TDP1 DPM3 CCDC88C IQSEC1 CCDC88C GRID2 GNB1 PAX6 SCO2 AARS1 AMPD2 NDST1 PANK2 CLIP2 BEST1 PIGT PIGS SORD PDSS1 POMT2 CEP120 COL6A3 HNRNPA1 RSRC1 PRSS12 SIK1 P4HTM ARX TPM3 DNAJC3 TTN BCL11B XRCC2 B4GAT1 AP5Z1 PLEKHG2 VRK1 MTM1 SLC6A1 COLEC11 PRKN ATP13A2 GLE1 ATXN7 PDGFB ABCC8 B9D1 CDON ADGRG1 OPHN1 TTPA TSEN2 PNKP AMACR PDHA1 MAGEL2 EEF2 CLN5 NPC2 PARS2 JPH3 WDR45B JRK FGD4 MYPN ZIC2 HACD1 TBC1D24 PNKD ACOX1 FKBP10 PCNA GRM1 ALS2 NONO CAPN3 EXT2 DOK7 CLCN4 SPTBN4 MPZ FGFR3 XPNPEP3 HUWE1 POLG COQ9 NUTM2B-AS1 ERBB4 POMK KCNAB2 POMGNT1 RAPSN GABRB3 TRIM37 HDAC4 ND5 PTCH1 MYPN RFXANK TRNL1 CSTB WASHC5 SNAP25 SHH WNK1 ND4 CTNND2 ERCC4 GLI2 AHR SLC39A14 PRICKLE1 SCN2A FOXG1 GYG1 KLHL9 DCC GFER UNC80 GARS1 IMPDH1 ATP1A1 ENPP1 WWOX PACS2 AFG3L2 CNTNAP1 MMADHC PMP22 QARS1 MRPL12 ZFYVE26 EIF2B3 MPZ SOX10 TSHR SNIP1 CYP7B1 STARD7 COPB2 NGLY1 INTS1 CACNA2D2 PDHB GBE1 FGF14 TRNW PEX5 PCNA PNPLA2 SLC16A2 C12ORF65 FOXP1 MYO9A EIF2S3 KCNQ5 PEX7 FGFRL1 IL1RAPL1 SUMF1 MTMR14 DARS2 FGFR2 CREBBP ITPR1 NDUFAF2 GCSH DAB1 HACE1 CHAMP1 AAAS COL9A1 NTNG1 GDAP1 FAM126A NAA10 KIDINS220 COMP ERCC6 TAT GTF2E2 KIF1B CNTN2 IQSEC2 C19ORF12 ANOS1 TRAPPC12 HMGCL ACD COA8 TOE1 ZEB2 TANC2 FBXW11 CANT1 TPK1
Protein Mutations 0