Disease Term Disease ID Gene Symbol References
Movement Disorders C0026650 ACHE 19628251
ACO2 26992325, 25351951, 28545339, 22405087
ADAR 23621630, 12916015, 15146470, 26802932, 24262145, 25604658, 24183309, 16536805, 24950769
ADCY5 27052971, 8415621, 26085604, 22539851, 8511718, 28511835, 12223546, 26686870, 12665504, 25379658, 27061943, 8429907, 12503609, 24700542, 1618857, 22782511, 26537056, 10051231, 25790160, 23449625, 28229249, 25193033
ADORA2A 26526685
ATM
ATP1A2 16088919, 15286158, 14667076, 27864847, 1361034, 23918834, 25138102, 17473835, 15174025, 16344534, 20837964, 28811059
ATP1A3 26297560, 26410222, 24468074, 19652145, 24436111, 22534615, 25895915, 29184165, 22924536, 24123283, 26400718, 24739246, 25359261, 22933743, 24996492, 22850527, 27091223, 23483595, 22842232, 25996915, 11020638, 25656163, 2842249, 28293679, 16632466, 8496742, 15260953
ALDH7A1
ATRX 10570185, 11015451, 10602370, 16813605, 21653732, 10398237, 28371217, 12116232, 24289169, 19005673, 16118346, 12032728, 12858175, 10417298, 11050622, 12673795, 18409179, 28371197, 24805811, 16722615, 1415255
KIF1A 28332297, 25265257, 28835676, 25585697, 27034427, 28708278, 21487076, 26486474, 28362824, 22258533, 21376300, 21820098, 26125038, 26410750, 26354034
BCS1L 11528392, 17314340, 17403714, 19508421, 12215968
BRAF 23875798, 18413255, 19206169, 16523510, 4386970, 16825433, 5771505, 18039235
BRCA2 18042939, 15796958, 16825431, 9497246, 12677558, 21568838, 21952622, 15197194, 16141007, 17416853
CACNA1A 19811514, 16043807, 1564484, 27476654, 9302278, 20156848, 23771276, 28742085, 9559993, 23934111, 14718690, 15300451, 21183743, 3358708, 15483044, 25735478, 25758715, 11723274, 18498393, 20097664, 9879686, 17495624, 8898206, 17142831, 11564488, 9436730, 16595610, 19484318, 16325861, 20204399, 23831250, 12707077, 26814174, 23441182, 11179022, 20682717, 15710862, 18541804, 20233618, 17575281, 20129625, 8988170, 9005860, 9403487, 18940563, 22249839
CACNA1B 30982612, 25296916
CACNA1D 23913001, 12700358, 10929716, 25620733, 28472507, 23913004, 25363760, 22495309, 21131953
CAMK2A 29100089
CAMK2B 29100089
CBL 20619386, 20543203, 26152360, 20694012, 28589114, 25952305, 22266821
CCND2 22228622, 15627943, 19641124, 22729222, 23624932, 26520804, 22500628, 28941273, 17486076, 22729223, 16766701, 24705253, 22729224
CDKN2A 12072543, 18981015, 21150883, 20132244, 21325014, 15937071, 16234564, 10956390
LYST
CLTC 1063406, 15284851, 24234437, 11955450, 28135719, 19854944, 24870542, 9147638, 20206336, 15858577, 9671304, 29100083, 22511880, 16982422, 8375651, 15217342, 26822784, 22831640, 16618797, 23911319, 19348700, 18762582, 24253303
CNR1 10802025
COL4A1 19194877, 17938367, 17696175, 22574627, 23394911, 21625620, 12525718, 16598045, 15882279, 15905400, 23065703, 16374828, 26220970, 19840616, 6428250, 16107487, 18160688, 19949034
CP 18200628, 16629161, 14719552, 25089372
CRH 21618986
CSF1R 8981357, 6595937, 23816250, 24145216, 18794495, 22098561, 23649896, 22843259, 22197934, 19487654, 23411710, 23408870, 24336230
CSTB 18325013, 17158032, 23205931, 12058102, 28378817, 21757863, 22154554, 26843564
CTBP1 7479821, 28955726, 27094857
CTNNB1 8227220, 24614104, 24668549, 25326669, 27915094, 8582267, 25533962, 23499309, 24431282, 9060476, 23033978, 22682243, 28575650, 21903672, 22110128, 1999432, 15866164, 15866163, 22495309, 15713948, 18334222, 11719191
CTNND2 15733271, 25807484, 25839933, 29127138, 25106414, 26601658, 25473103, 12835311
CYP21A2 25041270, 10857554, 24778650, 23359698, 23692712, 9521938, 24904866, 12930931, 15964450
DDX3X 26235985, 25533962, 25724843, 24267886, 16518819, 9381176, 17979704, 18463129, 15572142, 22722829, 15772666, 25326669, 2563148, 23413191, 25050112, 28371085
DHCR7 11241839, 18285838, 23293579, 10677299, 16906538, 9024557, 8259166, 16761297, 11562938, 21777499, 23918729, 15464432, 10807690, 15286151, 22438180, 23042628
DLG3 25649377, 24721225, 22659343, 28777483, 15185169, 19795139
SARDH
DNMT3A 27991732, 16501171, 16357870, 10555141, 17878930, 1423634, 28941052, 11399089, 22495306, 16725135, 27701732, 2717398, 21507354, 12138111, 23849776, 21844811, 10647011, 24614070, 20228804, 28475857, 28386848, 12359337, 21067377, 20729844, 10433969, 19344873, 26866722, 12575993, 17445268, 20651149, 19854944, 28667884, 15739230, 15672446, 15063176, 10325416
DOCK3 28195318, 15494731, 17055478, 15234347, 15829629, 14682358, 10854253, 28139846, 25348405, 10884317, 25599672, 14569117, 29130632, 15284851, 12566533, 25016980, 12432077, 24896178, 24870542, 19129390, 17046689, 17911219, 20368433
DRD1 6858777
DRD2 6858777
DRD3 12535962
SLC26A2 21077202, 15294877, 10465113, 8571951, 11241838, 12525546
EP300 25712426, 20717166, 12114483, 17220215, 26279656, 15706485, 27465822, 27964710, 19353645, 16428436, 11331617, 24352918, 24476420, 13983033, 20014264, 26486927, 27648933, 17299436, 18792986
CLN8 25891276, 27844444, 26657971
EYA4 15735644, 17567890, 27142990
ERCC6 10767341, 19894250, 18628313, 23428416, 1372469, 26749132, 26204423
FOXG1
FLG 16444271, 20790920, 22542183, 24267886, 17417636, 21173567
FOLR1 19732866
FOSB 10600402
FTL 24209436
FUS 26362943, 19251627, 20385912, 24280224, 22863194, 23474818, 20577002
G6PD 15735168, 2633878, 7283560, 9427729, 18177777
GABRB3 23934111, 28544625, 27476654, 24999380, 26645412, 28607477, 26950270, 26993267, 27622563, 18514161, 28053010
GBA
GJA1 24133447, 14974090, 27241686, 23675785, 27226478, 25976645, 28106320, 19615768, 16816024, 12457340, 19338053, 16531323
GJB1 21282593, 12477701, 15852376, 27844031, 23773993, 28097225, 26385972, 21692908, 22771394, 17353473
GNAO1 28357411, 29935962, 26060304, 25966631, 9050846, 27068059, 25590979, 23993195, 28747448, 21220323, 27625011, 28503590, 26485252
GRIA4 24721225, 23934111, 19224531, 26648591, 11036266, 25864721, 18316356, 17989220, 20716669, 19946266, 12692178, 26482601, 21857658, 1374769, 16487682, 8254358, 21376300, 11340205, 25167861, 20007474
GRIN1 19854944, 25864721, 7679115, 22796429, 2516786, 17315208, 28389307, 23934111, 23933818, 28051072, 23937349, 9526012, 17910072, 25838242, 27164704, 21376300, 20890276, 25167861, 16600850, 22974439, 6306230, 16635252, 16402093, 1834949, 22606296
HSD17B10
HARS1 22279524, 22930593, 27353947, 26072516
HTT 20929960
HEXA 12108829, 16088929, 3754980, 15714079, 8230592, 16199656, 19858779, 17412732, 9073025, 22025593, 19330222
NRG1 22226049
HPRT1 23975452, 25612837, 25503620
ITPR1 18579805, 27108798, 26770814, 25574826, 21367767, 22986007, 14981189, 28488678, 17590087, 12611586, 11445634, 17030759, 23495097, 25794864
KCNA2 27543892, 25477152, 25751627, 8158277, 9525859, 16002581, 16704338, 1377421, 8663993, 17634333, 27062609, 12127166, 26648591, 28019717, 8046438, 11331357, 12214225, 16075038, 16002579, 28032718, 8663992, 27117551, 15694325, 27733563, 14765197, 20696761, 21044565, 1706481
KCNN2 10200319, 21942705, 15194823, 11181977, 27048600, 21923633, 15184377, 19515965, 26166566, 22495311, 24434522, 22072564, 17329434, 18604572, 19075508, 15190101, 23430260, 15937479, 25917818, 15234350, 20553876
KCNQ2 16829045, 18238816, 22169383, 23621294, 10323247, 26795593, 24318194, 24107868, 27861786, 12742592, 29129156, 14985406, 26993267, 8327138, 27602407, 9425895, 17872363, 20196795, 22926866, 17675531, 22275249, 28602030, 9430594, 11572947, 25982755, 10781098, 15608631, 6965523, 23849776
LETM1
MAN2B1 12816222, 22161967, 26048034, 7307317, 9758606, 18651971
MECP2 27354166, 15558314, 21154482, 17267601, 10508514, 8177735, 17351020, 24458799, 16832102, 18337588, 11227330, 12615169, 24399845, 11035019, 17236109, 11058114, 15057977, 16169931, 23421866
MEF2C 22495311, 20513142, 22670137, 23389741, 19471318, 27255693, 22498567, 19592390, 17959722, 18579729
KMT2A 26795593, 27759909, 25724810, 27777327, 28359930, 25929198, 24886118, 12453418, 20711175, 25810209, 25186178, 22795537, 25574841, 7802037, 2738900, 23457195, 22197486, 8361504, 20541448, 22077973, 8634439, 7583381
MPZ 19293842, 23290023, 15004559, 10406984, 11080237, 10071056, 17663472, 11835375, 10764043, 10553995, 14638973, 9595994, 21840889, 26310628
ND5
RNR1
TRNF
TRNH
TRNK
TRNL1
TRNP
TRNQ
TRNS1
TRNS2
MYO5A
NFIA 22301465, 24657733, 24098143, 19058033, 17530927, 20673863, 19763616, 22542183, 27081522, 24462883, 24267886, 10518556
NPC1 22572546, 12974729, 19744920, 9425535, 10521297, 20525256, 15459971
OGDH
OPA1 20157015, 27656661, 12566046, 28841713, 22857269, 16158427, 14961560, 26561570, 23387428, 26385429, 27150940, 23384603, 14644237
OPRM1 20298714
PAX6
PDE6A 26496393, 26321862
PDHA1 10679936, 26008863, 27144126, 15384102, 25526709, 7887408, 21914562, 26944031, 23021068, 27896109
PDYN 20298714
SERPINA1 23632999, 9041988, 6306478, 26310624, 15115878, 18682522
PMM2 10527672, 28373276, 11343337, 15844218, 10854097, 9140401, 28425223, 10602363, 26014514, 26805780, 26488408, 24498599
PPT1
PRNP 16769939, 16831973, 15824374, 8250529, 16391566, 10963679, 9669700, 10408557, 20216075, 10541874, 15883322, 11709001, 7699395, 7902972, 12420099, 28987186, 23518043, 21911696, 12451207, 28778873
PSAP 15773042, 20484222, 19955343, 26831127
PTEN 11238682, 17392703, 22252256, 15805158, 23695273, 25132236, 25022750, 24136893, 21194675, 19668082, 17427195, 19265751, 12844284, 17286265
PURA 22711443, 1706516, 17698009, 25342064, 26582469, 28164378, 29097605, 12972605, 25439098, 19854944, 27148565, 29150892, 23950017, 28486374, 18266931, 19182532, 21594995
RARB 25457163, 24075189, 17506106, 27120018, 22318625
RYR1 23919265, 20839240, 16163667, 20583297, 23394784, 16917943, 16380615, 4149045, 8661021, 9199552, 23553484, 18765655
ATXN7 25664129
SCN1A 18930999, 9126059, 17347258, 21463290, 24836964, 17561957, 18413471, 15880351, 22719002, 19400878, 11359211, 15508915, 22409937, 12907273, 21248271, 16430863, 20879882, 24097157, 10742094, 21269283
SCN8A 26220391, 7751906, 23934111, 26029160, 23020937, 16236810, 26677014, 28702509, 9828131, 27270488, 25725044, 9295353, 20196795, 24874546, 26252990, 25914188, 25239001, 22365152, 26900580, 26993267, 24888894, 25799905, 10745221, 24352161, 25785782, 23708187
SGSH 21671382, 25851924, 27896117, 21061399, 23385295, 12687673, 17938166, 28921412
SLC2A1 23306390, 21791420, 24963779, 21555602, 1714544, 20129935, 23443458, 21832227, 22492876, 26336901, 10766892, 19798636, 20221955, 25487684, 26304067, 20687207, 23280796, 18577546, 26537434, 26193382, 26598494, 22976442, 12752470
SLC2A3
SLC12A2 15135928
SMARCA2 8287185, 22366787, 19606471, 25169058, 25249037, 14564210
SON 25533962, 27545676, 9185665, 24013217, 12606581, 11306577, 25590979, 23001566, 23033978, 20581448, 21504830, 22948023, 20976243, 23595291, 23416452, 23424103, 24896178, 25782155, 19961433, 16033648, 10950926, 1944255, 23603762, 10509013, 27545680, 22193954, 20053686, 3054499
SPAST 10699187, 11309678, 19453301, 26374131, 10610178, 24478365, 26671083, 26208798, 25315759, 14681884, 18190593, 17100993, 26094131, 23438842, 24267886, 17101632, 22554690, 23122959, 25065914, 15326248, 20562464
SPG7 28608987, 27217339, 22571692, 26374131, 22554690, 26671083, 26094131, 26260707, 27260292, 24731568, 22964162, 26626314, 27084228
CDKL5
STXBP1 22722545, 22495311, 24836964, 23020937, 18469812, 21062273, 21364700, 25621899, 26514728, 9545644, 16829045, 21204804, 17301226, 26537360, 21762454, 27184330, 20196795, 21770924, 24623842, 23409955, 16806828, 20876469, 25914188, 20887364, 19557857, 25714420, 26865513
SURF1 22488715, 9837813, 16225813, 26762927, 19780766, 23829769, 26443249
VAMP2 30929742
SYT1
TCF4 22678594, 22460224, 17436254, 22045651, 18728071, 19938247, 21533127, 27072915, 28807867, 17478476, 17436255, 22581936, 22712893, 19235238, 22335494, 26087656, 23185296, 18081026, 18627065, 21671391, 21245398, 20825314
TCF20 27436265, 17151600, 25533962, 28135719, 18351660, 25228304, 27479843
TH 20823027, 24696406, 20430833
NKX2-1 24930029, 22832740, 19336474, 12891678, 21292530, 24714694, 11854319, 15289765, 23911641, 28677170, 26196025, 7635972
UBE3A 26219744, 25212744, 17765640, 16470747, 19213023, 17940072, 22670133, 2309781, 25884337, 15263005, 24876791, 8988171
NSD2
NELFA
XK 11261514
TUBA1A 22264709, 23361065, 20466733, 24860126, 18728072, 18954413, 23528852, 18669490, 25008804, 17584854, 26795593
ALDH5A1 19172412, 26268900, 27268762, 12743223, 7726383, 16298354
KMT2D 23320472, 12482968, 16603732, 27568880, 27778401, 14608645, 14699623, 22304445, 28884922, 26898171, 21671394, 21658225, 9285441, 26194542, 28884889, 3067577, 21280141, 27991736, 22126750, 28295206, 28256057, 27573763, 26049589, 25972376, 20711175
GAN 19231187, 17256086, 11053687, 2153943
KDM5C 27421841, 15586325, 17320160, 16541399, 18203167, 25666439, 26919706, 19826449, 17468742, 18697827, 23999528, 24583395
SMC1A 17221863, 26354354, 25537356, 28102598, 26358754, 16604071, 17273969, 23106691, 7757074, 26752331, 28548707, 20635401, 24896178, 19842212, 26386245, 22106055
CUL4B 21816345, 10978355, 20655035, 20002452, 17236139, 19818632, 17273978, 24898194, 28817236, 25385192
OFD1 19396822, 25238977, 10892847, 15466260, 18546297, 22353940, 27081566, 19800048, 22619378, 16311594, 24884629, 19876934, 23033313, 16783569
CASK 21498811, 20029458, 25886057, 21954287, 24768552, 23662938, 22709267, 23623288, 19377476, 22452838, 22495306, 24781210, 19165920
SYNGAP1 15312654, 20531469, 28576131, 21376300, 23020937, 23033978, 23934111, 23708187, 21237447, 26079862, 19196676, 23161826, 24267886, 25533962, 22604720, 27827368, 23141534, 26989088
CCN6 29092958, 22987568, 23270760, 22791401, 25988854
HDAC3 19109904, 17416969, 22230954, 10491319, 10860984, 22363205, 27543892, 25209348, 10944117, 23770587, 20691407, 25425123, 11742974, 11509652, 17158926, 26795593, 25800122, 25339172, 25102098, 18830415, 15837933, 21545841, 22495309, 10748092, 15897262
EIF2B5 12707859, 16807905, 9710032, 25089094, 20838246
AP4M1 24781758, 19559397, 25496299, 21937992, 23167973, 24395635, 20972249, 24700674, 25552650, 21620353, 23472171
ADGRG1 21708946, 24531968, 21349848, 25642806, 23981349, 19016831, 25607655, 16240336, 20929962, 12730993
GABBR2
KMT2B 10409430, 27320412, 21892160, 27992417, 19344873, 23426673, 25405613, 16540515, 27839873
TELO2
MICU1 24336167
TUBB4A 25545912, 28655586, 26318963, 28592043, 20191564, 23424103, 12372733, 24706558, 23595291, 25168210, 23582646, 21956287, 24526230, 24785942, 24974158, 24850488, 26643067, 24742798, 27188707, 25085639
ZBTB18 21934713, 11854316, 23494996, 22513377, 20059953, 20672375, 19409883, 17668379, 20382278, 11350943, 21800092, 9756912, 14681759, 25131622, 11179890, 27598823, 22234186, 17447250, 10567577, 9568537, 26740508, 24614070, 22095278, 22678713, 24193349, 23020937
CTCF 23746550, 28135719, 28619046, 22354838, 18654629, 19563753
UTS2 16160878
WDR45 23435086, 26173968, 25263061, 25592411, 24621584, 20562859, 23687123, 23176820, 24847269, 28932395
PLPBP
PNKP 10446192, 25728773, 27165045, 24965255, 7165045, 27232581, 23224214, 20118933
NTNG1
TRAK1 12435728, 28300646, 23395375, 15644324, 16380713, 23603762, 28364549, 24161670, 18675823
SETX 15732101, 19696032, 14770181, 15106121
EMC1 26942288, 23105016
POGZ 24463507, 24267886, 22542183, 24896178, 22495311, 26942287, 25694107, 9862965, 23375656, 25533962, 26739615, 27148570, 28480548
PMPCA 9700204, 26657514, 22495024, 27148589, 25808372, 11020385
RHOBTB2
EXOC6B 26669664
ARC 20298714
SATB2 28170089, 10417281, 17377962, 2918541, 16960803, 19668335, 28211976, 24363063, 23925499, 27668656, 28151491, 24896178, 19576302, 16751105, 24301056, 25885067, 28139846, 12915443, 27409069, 23849776, 25106414
MED13L 24896178, 29159987, 28645799, 5167861, 24781760, 25137640, 25167861, 25758992, 25356899, 28588821, 14638541, 24267886, 23403903, 28371282, 27899622, 25712080
ADNP 22495309, 26637798, 25057125, 11013255, 27031564, 25169753, 28221363, 26845707, 28191889, 23160955, 24531329
ZFYVE26 25497598, 24267886
RBFOX2 27211866, 27485310, 16260614, 25205790, 26785492, 25753418
PIGN 24852103, 25920937, 18635593, 26394714, 24253414, 26419326, 21493957, 26879448, 27038415, 10574991, 26364997
MMACHC 16311595, 26658511, 21748409, 19370762, 25398587, 26283149, 16714133
SACS 18465152, 17846221, 17683082, 16961075, 10655055, 14718708, 22441213, 15985586, 25401298, 19208651, 8472930, 21450511, 12873855, 16007637, 22751902, 27871429, 26288984, 23280630, 23497566, 20876471, 11788093
FLVCR1 24628582, 22279524, 9409377, 27923065, 21267618, 21070897
ATL1 23483706, 20932283, 17502470
HIKESHI 25760597, 26545878, 28000699
ATP8A2 27679995, 25590979, 28454995, 22912588, 22892528
CHD7 20130577, 18834967, 23883829, 25472840, 16155193, 23849776, 17299439, 15666308, 26590800, 10590394, 22539353, 22495309, 21532573, 17661815, 16400610, 15300250, 20186815, 22461308, 14626219, 21378379
NGLY1 22581936, 27388694, 11562482, 24651605, 12711318, 17088551
ZC4H2
MCCC1
MRPS22 25663021, 27159321, 28752220, 21189481, 17873122
GJC2 23621851, 24374284, 22610664, 20537300, 15192806, 19056803, 21266381
VARS2 25058219, 24827421, 27502409, 21708121, 27290639, 23433712
GATAD2B 23644463, 25356899, 26944241, 23033978
TBC1D24 24291220, 28663785, 28428906, 25769375, 24469796, 24387994, 27541164, 28292732, 25169651, 27281533, 26207815
ARID1B 6499251, 25674384, 26376624, 25363768, 27389779, 23929686, 26395437, 22405089, 28867767, 23906836, 24569609, 20086098, 22426309, 25169814, 22426308, 11170086, 24674232, 16691594, 24267886, 21801163
ZNF335 22495306, 26795593, 19131338, 27540107, 23178126
MCCC2
TMPRSS3 21786053, 26036852, 12920079, 17981648, 28263784, 26408194
TSEN34 18711368
SLC52A2 24253200, 23107375, 27702554
SH3TC2 20220177, 19744956, 9120441, 21291453
NUBPL 23828044, 22826544, 18497740, 22499348, 23553477, 22972949, 12805096, 19336460, 10214753, 21766414, 15576045, 22072591, 19752196, 20818383
TSEN2 18711368
GPT2 28130718, 25758935, 24901346, 27601654, 29226631
TMEM67 19574260, 20232449, 10508989, 27491411, 19508969, 19778711, 25729630, 26092869, 23559409, 25920555
PGAP3 17314402, 26077850, 24439110, 28390064, 22265715
PRRT2 23126439
STX1B 27781031, 25362483, 8105537
RAB39B
LRRK2 24243757, 28103901, 16102999, 18213618, 17200152, 15541309, 25330418, 16157901
NDUFAF6 27466185, 26741492, 18614015
PTCHD1 23871722, 20844286, 21091464, 25131214, 25782667
KCTD7 17455289, 22748208, 25060828, 22638565, 27742667, 22606975, 15778103, 19084560, 22693283, 21710140
VPS13B 21418059, 22382802, 20656880, 15141358, 12730828, 15498460, 16648375, 26104215, 9628581, 19006247, 17990063, 11477603
C11orf65
ASXL1 25921057, 22419483, 22436456, 21706002, 26364555, 15040442, 21368916
POLR3H 22405087, 26992325, 28545339, 25351951
TET3
RICTOR 2006, 16962829, 22521878, 11042116, 22500797, 17141160, 19344873, 15284851, 25348405, 23049074, 8751724
EBF3 28487885, 19627984, 28017373, 28017372, 20300201, 29062322, 28017370, 29162653
TSEN54 18711368
SLC13A5
LAMA1 10607917, 25105227, 27095636, 6795355, 9151674, 21937992, 20048158, 24013853, 23161681, 15102706, 23263632, 19553699, 2591971, 19854944
CTBP1-AS 27094857, 7479821, 28955726
FLG-AS1 24267886, 22542183, 16444271, 20790920, 21173567, 17417636
EMC1-AS1 26942288, 23105016
SCN1A-AS1 22719002, 20879882, 22409937, 10742094, 18413471, 17561957, 18930999, 16430863, 17347258, 11359211, 21248271, 15880351, 9126059, 24836964, 24097157, 19400878, 15508915, 21463290, 21269283
SNHG14 19213023, 25884337, 25212744, 16470747, 8988171, 22670133, 26219744, 15263005, 2309781, 17765640, 24876791, 17940072