Disease Term Disease ID Gene Symbol References
Multiple congenital anomalies C0000772 ACTB 27868373, 23649928, 10411937, 23756437, 25052316, 25156961, 27240540, 16685646, 22366783, 22495914
ACTC1 22464770, 17947298, 27139165, 17611253, 24461919
ACTG1 22366783, 26188271, 15194427, 19419963, 27625340, 27240540, 25052316, 25624931, 28493397, 13680526, 2395459, 9665849, 28496999
ACTG2 28383543, 24676022, 26669664, 19098683, 25782675, 24337657, 22960657
ACVR1 19085907, 8758048, 16642017, 26436010
ACAN 24762113, 1978986, 12626230, 21948754, 16080123, 27870580, 19110214, 20137779, 18226555, 17317784, 12205105
ARNTL 24652800
ATP1A3 16632466, 22850527, 11020638, 19652145, 24436111, 22924536, 25359261, 22842232, 26410222, 24468074, 22534615, 22933743, 25996915, 23483595, 26297560, 15260953, 24739246, 26400718, 24996492, 24123283, 25656163, 27091223, 2842249, 29184165, 8496742, 25895915, 28293679
ATP6V1B1 27247958, 7499943, 28188436, 23729491, 23923981, 16769747, 9916796, 16611712, 11045400
ATRX 18409179, 10417298, 21653732, 28371217, 28371197, 12858175, 12116232, 1415255, 16813605, 10398237, 11050622, 24805811, 12673795, 16118346, 24289169, 19005673, 11015451, 10602370, 10570185, 16722615, 12032728
KIF1A 28362824, 28835676, 28332297, 26486474, 27034427, 28708278, 26125038, 25265257, 26410750, 21487076, 25585697, 21820098, 21376300, 26354034, 22258533
BMP7 17003840, 20506283, 24429398
BRAF 16825433, 16523510, 4386970, 5771505, 18413255, 18039235, 19206169, 23875798
CACNA1A 18498393, 18940563, 9436730, 15710862, 14718690, 9005860, 23934111, 28742085, 20682717, 9403487, 11723274, 12707077, 20129625, 21183743, 15483044, 1564484, 16325861, 20233618, 19484318, 17495624, 26814174, 8898206, 11179022, 9302278, 16043807, 20204399, 23441182, 3358708, 25735478, 15300451, 16595610, 22249839, 17142831, 9879686, 20156848, 18541804, 9559993, 17575281, 23771276, 25758715, 11564488, 27476654, 23831250, 20097664, 8988170, 19811514
CCND2 26520804, 22729222, 15627943, 17486076, 22729223, 28941273, 19641124, 16766701, 23624932, 22729224, 22228622, 24705253, 22500628
CDC42 19092927, 14561717, 23382385, 22266952, 18245432, 11025683, 11149925, 17918734, 17540168, 12915473, 8103286, 17970806, 21423166, 21515363, 18511961, 12687501, 10898977, 12195014, 26386261, 12478284, 17050694, 11864373, 15269155, 19700661, 20878268, 7473653, 16949823, 20633244, 24059268, 15884002
CECR 11693792
CHD4 26116663, 27479907, 20693977, 24348274, 27616479, 22302795, 27418512, 28135719, 25849321
CHRNG 24038971, 22167768, 27245440, 25957469, 16826531
CHUK 20961246
CLTC 19854944, 15217342, 26822784, 24234437, 8375651, 9147638, 15858577, 20206336, 1063406, 22831640, 11955450, 23911319, 15284851, 16618797, 29100083, 28135719, 19348700, 18762582, 9671304, 24253303, 24870542, 22511880, 16982422
COL1A2 9557891, 2824475, 15077201, 9295084, 24668929, 458828, 17078022, 2010058, 21912751, 21344539, 28916840, 28625337, 21801164, 24140640, 8071956, 25944380
COL2A1 10353778, 12848929, 20179744, 26358419, 26345137, 1971141, 26626311, 9724608, 22791362, 12925722, 26250472, 20513134, 25604898
COL11A1 21668896, 25240749, 19449424, 17236192, 21035103, 9529347
COL11A2 2760050, 9805126, 10581026, 10486316, 7859284, 813535, 9188673, 9506662, 21671392, 22246659, 10353778, 10677296, 10733181, 8838804, 16637051, 16033917, 2463256
CREBBP 27342041, 27165009, 26788536, 16783566, 10699051, 12114483, 15706485, 13983033, 26603346, 26956253, 25388907, 27311832, 25599811, 18792986, 16021471, 25108505, 12070251, 27899622
CSF1R 6595937, 24336230, 19487654, 23649896, 23816250, 23408870, 24145216, 8981357, 22098561, 18794495, 22843259, 23411710, 22197934
CTNNB1 25533962, 15866163, 11719191, 28575650, 24614104, 15866164, 15713948, 18334222, 27915094, 22682243, 9060476, 8227220, 23033978, 24668549, 1999432, 23499309, 25326669, 21903672, 22495309, 22110128, 24431282, 8582267, 22975441
CYP21A2 15964450, 23359698, 10857554, 23692712, 9521938, 24904866, 25041270, 24778650, 12930931
DDX3X 9381176, 25724843, 17979704, 25326669, 16518819, 15572142, 28371085, 2563148, 22722829, 26235985, 15772666, 25050112, 24267886, 23413191, 25533962, 18463129
DHCR7 21777499, 23293579, 8259166, 10807690, 23918729, 15464432, 16761297, 22438180, 16906538, 10677299, 11241839, 23042628, 18285838, 11562938, 9024557, 15286151
DNAH5 16627867, 23261302, 11788826, 12615011, 24267886, 19357118
DNMT3A 28941052, 19344873, 10325416, 21067377, 15672446, 10555141, 10647011, 22495306, 15063176, 11399089, 23849776, 16357870, 12359337, 10433969, 20729844, 17878930, 28667884, 17445268, 2717398, 26866722, 15739230, 19854944, 12575993, 1423634, 28475857, 16501171, 21507354, 20651149, 27701732, 28386848, 24614070, 16725135, 21844811, 12138111, 20228804, 27991732
DOCK1 18332221, 20829512, 18591431, 17765544, 17670792, 26527617, 27662902, 25022758, 18820033, 3372592
DVL1 25817016, 17256787, 25817014
DYRK1A 25944381, 18405873, 21204217, 2143053, 19685005, 19383720, 23512985, 12192061, 25167861, 22918246, 23099646, 21294719, 25707398, 25920557, 26922654, 18364031, 12814361, 17237124
ECHS1 28106320, 26081110, 25125611, 28755360, 26000322, 26920905, 25393721, 27221955, 28039521, 27090768, 28409271, 28202214, 26099313, 27905109
EFNB1 23335590, 15166289, 16143553, 8669441, 15124102, 15959873, 16685650, 25486017, 24281372, 28140668, 26180728, 15363810
EP300 19353645, 11331617, 16428436, 20014264, 24352918, 26486927, 18792986, 25712426, 27964710, 17220215, 27465822, 27648933, 12114483, 15706485, 26279656, 20717166, 24476420, 17299436, 13983033
ETV6 25356970
BPTF 26014595, 18334252, 22366787, 28942966, 18848651, 18974875, 16774993, 9225734, 27513193, 22426308, 16264191, 24700502, 16728978, 18794365, 14609955, 19713963, 22166941, 11583616, 8521501
FBN1 8941093, 14598350, 16333834, 20375004, 11700157, 25101912, 25736269, 26026792, 16571647, 3536967, 25979247, 26787436, 21683322, 12651868, 23278365, 24635535, 21594992, 24039054, 20591885, 15241795, 8563763, 17701892, 20979188, 24665001, 17253931, 23897642, 21594993, 23133647, 16273536
FGD1 14560308, 16353258, 20082460, 15809997, 24307393, 16688726, 22211847, 17152066, 11940089, 8969170, 19110080
FGFR2 8434615, 10712195, 11781872, 7573032, 11343323, 24127277, 10735635, 25245177, 7987400, 10067911, 16061565, 9585583, 26362256, 15793702, 25343114, 10633130, 19610084, 10631169, 1519658, 18726952, 28901406, 4078868, 22387015, 16501574, 25209230, 16740155, 15883293
FOXG1 24836831, 18571142, 22998673, 19578037, 27001178, 28544139, 26364767, 27029630, 26344814, 25565401, 2760358, 24766421, 27640358, 20356955, 21441262
FLT4 19002718, 24167460, 12960217, 23074044, 15689446, 9817924
GAA 8558570, 3132435, 16702877, 23531252, 23430493, 17853454, 19542901, 17151339, 16737883, 25526786, 18458862, 8990003, 24107549, 21631931, 21757382, 12897283, 15985590, 25673129
GJA1 25976645, 27241686, 24133447, 16816024, 28106320, 19338053, 14974090, 12457340, 23675785, 16531323, 19615768, 27226478
GJA8 20806042, 26694549, 27785597
GLE1 25343993, 24961629, 18204449, 27684565, 23421748, 3993672, 28884921
GLI2 14581620, 21204792, 15994174, 22967285, 20685856
GNAS 23884777, 27431290, 10980525, 23281139, 14561710, 8383205, 18796523, 25802881, 17161328, 11600516
GPD1 28944580, 22226083, 24549054
GPER1 21984484
GSK3B 22975441
GUCY2D 19959640, 25515582, 12365911, 17651254, 23035049, 10951519, 29061346, 20517349, 24997176
HADHA 12838198, 26676313, 27117294, 11773547
HIVEP2 23020937, 26153216, 27003583, 22294689
HNRNPK 24990929, 26173930, 9218800, 21800092, 12183465, 10817758, 24501764, 8833161, 11891683, 28374925, 15284851, 20116073, 22102872, 10995551, 12853611, 9234727, 23455423, 15170860, 24253303, 19348700, 11867641, 19854944, 15364910, 18054780, 10523673, 26954065, 16488668, 19170760, 24288371, 11574481
HRAS 12210337, 25914166, 16170316, 29073591, 22317973, 17250658, 28390077, 14608654, 18470943, 16155195
RBPJ
ITPR1 22986007, 21367767, 12611586, 23495097, 14981189, 17590087, 27108798, 17030759, 25574826, 28488678, 25794864, 26770814, 18579805, 11445634
JAK1 25356970
ANOS1 11390716, 1913827, 10340754, 15471890, 1922361, 7820942, 25300141
KCNH2 12925462, 10220144, 19716085, 21130771, 25974115, 15828882, 15840476, 27761161, 16926178, 18835466, 17210839, 16414944, 11136691, 24400717
KRT12 19337156, 9399908
LRP5 12579474, 11719191, 20652025, 15346351, 28677207, 12054167, 28111184, 15824851, 22487062
SMAD2 26247899, 23665959, 11024047, 10068469
MAN2B1 9758606, 26048034, 12816222, 7307317, 22161967, 18651971
MEF2C 22670137, 18579729, 22495311, 20513142, 27255693, 23389741, 17959722, 19592390, 22498567, 19471318
KMT2A 20541448, 25810209, 26795593, 22077973, 24886118, 28359930, 7802037, 12453418, 20711175, 22795537, 23457195, 27759909, 22197486, 2738900, 27777327, 8361504, 25186178, 25724810, 25574841, 7583381, 25929198, 8634439
MN1 7731706, 7731705, 11559848, 19344873, 18948418, 25549701, 19386590, 12569362, 22436304, 24075189, 15890672, 19919682, 11094079, 15870292
MTIF2
MYO7A 20132242, 17361009, 9171833, 21150918, 18181211, 9382091, 9354784, 8776602, 15221449, 7870171, 21174530, 10094549, 8900236
NEB 16917880, 19805734, 2838409, 17525139, 12207937, 15221447, 10051637, 15336686, 27933661, 15266303, 21724397, 25205138
NDUFB3
NF1 25325900, 23244495, 25951773, 26178382, 17105749, 1770531, 15221447, 9375928, 22041710, 25324428, 16835897, 28213670, 23047742, 18172006, 26758488, 21089071, 17369502, 23354915, 6025371, 16542390, 23656349, 22429592, 27322474, 19539839, 10726756, 16786042, 23165953, 19117870, 19920235, 23812910, 24219125, 20142468, 27170677, 22604720
NFIA 22301465, 10518556, 19763616, 27081522, 24098143, 22542183, 17530927, 24462883, 20673863, 19058033, 24657733, 24267886
NHS 16736028, 21559051, 24968223, 22229851, 14564667, 11836358, 19414485
NODAL 25298693, 8429908, 9354794, 11709181, 8610013, 22352765, 19553149, 19933292, 16721152, 19064609
NOTCH1 28160419, 16025100, 18593716, 23613382, 23578328, 25132448, 22245843, 10221902, 10946361, 21457232, 16729972, 25963545, 17662764, 19597493, 25914885, 22318994, 24273032, 19610107, 24862819
NTRK1 28940190, 27676246, 22302274
OTX2 22577225, 18728160, 24167467
PAX2 24676634
CHMP1A 23023333, 11559747, 11559748
PDHA1 21914562, 27144126, 7887408, 15384102, 26008863, 10679936, 25526709, 27896109, 26944031, 23021068
ATP8B1 25737299, 9500542, 19479804, 23060447, 19918981, 20852622
PIK3CA 23246288, 25557259, 27426476, 27870750, 27631024, 23754335, 28941273, 17376864, 24497998, 22729224, 16847462, 22228622, 26301495, 26593112
PIK3R2 24497998, 23606607, 26520804, 22729224, 23619167, 26860062, 23449172, 22989095, 23592320, 28086757, 21984976, 23745724
PKD2 11095651, 9856528, 12707387, 26364947, 26275819, 24925719, 23376035, 17429049, 9856513, 22383692, 11007674
PLCB4 18314001, 27007857, 23315542, 28328130, 22560091, 16114046
PLP1 11093273, 8780101, 16130097, 17568416, 2479017, 27179222, 9418954, 16778599, 11761472, 8520726, 15627202, 7541901
POLD1 23770608
PPP3CA 10473536, 28942967, 24140049, 15800199, 11461966, 27597899, 25245802, 8052858, 20700442, 3029762, 22015374, 25262651, 10627609
PRF1 23690113, 15755897, 21303357, 26605207, 17266056, 23443029, 18710388, 16937360
PRPS1 15955956, 24285972, 25785835, 26089585, 12847698, 8968763, 8498830, 25491489, 20380929, 17701896, 24528855, 20021999
PTEN 15805158, 17427195, 12844284, 19668082, 19265751, 22252256, 25022750, 21194675, 25132236, 18759867, 24136893, 23695273, 17392703, 11238682, 17286265
PTPN11 1258892, 17222357, 11704759, 21533187, 26249544, 27619028, 21500339, 26297936, 16523510, 1543375, 19467855, 12960218, 17056636, 21396583, 27521173, 9222968, 8530013, 4386970, 19206169, 4025385
PYCR1 22052856, 19648921, 19576563, 24035636
RAF1 20876176, 24777450, 22826437, 23613113, 23877478, 22389993, 26903553, 26446362, 21396583, 20052757, 17603483, 16523510, 17603482, 19437094, 21784453
RARB 27120018, 24075189, 25457163, 22318625, 17506106
RIT1 27101134, 25124994, 25959749, 26757980, 23791108, 26714497, 27109146, 24939608, 25049390, 20876176
RPL5 19061985
RPS6KA3 20637903, 22495309, 24859339, 25044551, 24267886, 17100996, 12030896, 24311527, 11180593, 15668050, 26043507
MSMO1 25148791, 23622407, 24144731, 22935719, 20929975, 8663358, 25896808, 21285510
SCN5A 10940383, 20100972, 11710892, 20129283, 22840528, 25274057, 17210839, 15655131, 18378609, 12736279, 16453024, 10471492, 15840476, 14523039, 9753711, 19251209, 22999724, 16684018, 22766342
SKI 23103230, 23023332, 15884042, 24736733, 27146836
SLC16A2 14661163, 24629861, 21896621, 24665922, 21098685, 27672545, 25644381, 18398436, 15889350, 23550058, 2393019, 22805248, 20628049, 20655035, 12871948
SMARCA4 23775540, 24658001, 23815551, 20137775, 22426308, 23929686, 28608987, 23637025
SMARCB1 23929686, 22426308, 25168959, 23906836, 23815551
SMARCE1
SON 10950926, 25590979, 20053686, 24896178, 23416452, 25782155, 23603762, 27545676, 23595291, 24013217, 9185665, 10509013, 22948023, 21504830, 23033978, 20976243, 16033648, 20581448, 11306577, 23001566, 1944255, 27545680, 23424103, 3054499, 19961433, 12606581, 25533962, 22193954
SOS1 17510059, 17143282, 26249544, 25073238, 17143285, 21387466, 17586837, 23165751, 19467855, 18651097, 19020799, 26708403, 16773572, 11868160, 21784453, 19077116, 25180280, 21396583, 19438935, 22551697, 22604720
SOX2 16145681, 17219395, 20803647, 15578584, 27427475, 15812812, 19921648, 16932809
SOX11 15254231, 24886874, 26543203
STAT3 25359994, 18602572, 28073828, 17881745, 26343524, 20159255, 22520845, 25038750, 29180260, 22751495, 26394394
TBCE 15645691, 9475091, 27666369, 12389028, 2001103, 7538982
TFAP2A 7747785, 25590586, 21204207, 23578821, 20358615, 19764023
NR2F2 15750894, 28135719, 24702954, 18798693, 18371933, 24702427, 16251273, 26633542, 21172461, 10215630
LEFTY2 10053005
THRA 22494134, 26037512, 25670821, 23633213, 22604720, 27144938, 22168587, 24969835, 23940126
TRIO 25533962, 26721934, 27418539, 22495306, 28928363, 24038936, 25363760, 8643598, 23033978
TRPS1 11112658, 25792522, 10615131, 24709795, 14560312
TTN 21810661, 22335739, 18948003, 12669942, 24105469, 23518707, 21617319, 23418287, 17444505, 11717165, 1745277, 10462489, 12145747, 24395473
USH2A 21174530, 18665195, 24160897, 10775529, 10729113, 20145675, 23352160, 24944099, 11311042, 15325563, 12525556, 22495311, 17296898, 21234346, 25649381
KDM6A 21671394, 15690368, 17178841, 23076834, 19330029, 27302555, 21658225, 24527667, 9499428, 23354975, 15690370, 22192413, 22197486, 24664873, 23913813, 18434530, 21280141
VRK1 25356970
VWF 3495304, 23401897, 16889557, 16862529, 11686102, 16985174, 17190853, 19372260, 16634745, 22197721, 2563148, 26288715, 24319188
TUBA1A 23361065, 26795593, 18728072, 18669490, 18954413, 23528852, 20466733, 25008804, 22264709, 17584854, 24860126
SHOC2 25846317, 25331583, 21548061, 19684605, 25137548, 22528146, 23918763
KMT2D 3067577, 27778401, 28256057, 23320472, 14699623, 16603732, 28884889, 27568880, 20711175, 22304445, 27991736, 21671394, 26898171, 28295206, 28884922, 14608645, 26049589, 27573763, 21280141, 9285441, 21658225, 26194542, 12482968, 25972376, 22126750
AAAS 26622478, 6243664, 18628786, 12752575, 16098009, 1537368
RBM10 28577551, 5410571, 24259342, 20451169, 21910224, 24530524
SMC1A 22106055, 26354354, 20635401, 28102598, 25537356, 16604071, 17221863, 19842212, 26358754, 26752331, 17273969, 28548707, 24896178, 23106691, 26386245, 7757074
CUL3 18687424, 22495309, 23676014, 15071497, 10500095, 20065088, 16162871, 27824329, 21554755, 3002982, 22914163, 15511641, 24266877, 24267886, 23665959, 25969726, 18927510, 16595883, 15843622, 20880695, 24959344, 22266938, 17559828, 25363760, 15136734
PPM1D 18265945, 28135719, 23242139, 26847329, 26823519, 25356970, 24267886, 24911145, 28343630, 27479843, 22065775
CASK 24781210, 22452838, 24768552, 21954287, 23662938, 21498811, 20029458, 23623288, 22709267, 19165920, 22495306, 25886057, 19377476
CDK13 29222009, 26539891, 29021403, 28807008, 27479907, 25560765, 24999027, 28135719, 19344873
TP63 21466819
NRP2
SYNGAP1 23033978, 23934111, 20531469, 23141534, 19196676, 21376300, 23708187, 23020937, 27827368, 22604720, 25533962, 21237447, 23161826, 26079862, 15312654, 24267886, 26989088, 28576131
KYNU 28792876
PIGQ 24852103, 11418246, 9729469, 25851949, 24463883, 22265715, 10373468, 9463366, 25558065
EFTUD2 23239648, 22541558, 19921636, 25735261, 22305528, 27670155, 16760738, 23879989, 23188108, 24266672, 25790162, 22581936, 24470203, 26118977, 26507355
NRXN1 18057082
RECQL4 16681588, 19291770, 24635570, 18647888, 18716613
ECEL1 24782201, 25708584, 23261301, 23236030, 25099528
ZEB2 17958891, 19842203, 26721324, 21343952, 16053902, 27831545, 19764019, 26809768
MED12 25644381, 20970104, 17334363, 26338144, 23395478, 17369503, 16700052, 20507344, 24039113, 17103446, 10405444, 17036352, 8279489, 26273451
ABCC9 16835932, 17245405, 21344641, 15034580, 23307537, 22608503, 10398267, 22610116
HNRNPR 19015982, 22498899, 14623865, 20584894, 22366783, 23734093, 15822126, 20795951, 11773003, 23934111, 17603806, 16757948, 9421497, 25338097, 20167579, 20382278, 15858414, 23756437
SF3B4 24715698, 24003905, 18000904, 23568615, 22541558, 27642715
STAG1 28119487, 22604720, 24896178, 23020937, 22542183
TUBB3 23503589, 24612975, 23378218, 20074521, 20829227, 24257358, 25059107, 25559402, 26639658, 25482575
ZBTB18 10567577, 17668379, 25131622, 20382278, 17447250, 11350943, 14681759, 9568537, 26740508, 19409883, 22513377, 22095278, 11854316, 23020937, 23494996, 27598823, 22678713, 21800092, 20672375, 9756912, 21934713, 11179890, 24614070, 20059953, 24193349, 22234186
CTCF 18654629, 19563753, 28619046, 22354838, 23746550, 28135719
RAI1 25781356, 16845274, 15788730, 17041942, 15565467, 26544804, 26891008, 21857958, 21897445
ZMYND11 25217958, 16565076, 24590075, 22847950, 24963723, 25281490, 23372760, 24267886
SRCAP 25433523, 23621943, 23763483, 26788936, 24970356, 22265015, 23708140, 22965468
WDR45 20562859, 28932395, 23176820, 26173968, 24847269, 23687123, 25592411, 24621584, 23435086, 25263061
CHEK2 18759107, 15122511, 22058428, 21807500, 18004398, 19338683, 16551709, 23296741, 11719428, 16078115, 25467110, 26506619, 21876083, 15492928
PUF60 28327570, 19464398, 27804958, 10606266, 10668799, 24140112, 19854944, 28135719, 24253303, 17579712, 28990276, 19348700
MORC2 28581500, 27105897, 27329773, 27794525, 26659848, 28771897, 26497905, 28334961, 28402445, 26912637
RAB3GAP1 23176487, 23420520, 20512159, 15696165
NMNAT2 16118205, 12574164, 25560765, 28035283, 21615689, 23082226, 14516279, 24840802, 21940452, 12359228, 22842230, 24284888, 20943658
POGZ 24896178, 22542183, 28480548, 26942287, 24463507, 22495311, 26739615, 23375656, 9862965, 24267886, 27148570, 25694107, 25533962
PHF8 17661819, 20622853, 19843542, 17594395, 16199551, 25167861, 18498374
IQCE 22981989, 18799693, 19810119, 25348401, 28224613, 3719536, 9399901, 28488682, 24582806, 23719536, 27626380, 22495311
SATB2 25885067, 19668335, 23925499, 19576302, 27409069, 16751105, 12915443, 24301056, 28211976, 16960803, 25106414, 2918541, 10417281, 23849776, 27668656, 28151491, 28139846, 24896178, 28170089, 24363063, 17377962
MED13L 25167861, 25712080, 28645799, 25356899, 28588821, 23403903, 14638541, 25137640, 24896178, 24267886, 29159987, 25758992, 5167861, 27899622, 24781760, 28371282
ADNP 25169753, 24531329, 25057125, 26845707, 28191889, 28221363, 27031564, 22495309, 23160955, 26637798, 11013255
TGDS 25480037, 14564220, 18501694, 24326962, 28422407, 26366375, 21834032
HAAO 28792876
KAT6B 28696035, 29226580, 26334766, 22077973, 23436491, 22265014, 22715153, 25424711
RBFOX2 27211866, 25205790, 27485310, 26785492, 16260614, 25753418
RAB3GAP2 20967465, 23176487, 16532399, 23420520, 24482476, 24239381
VAX2 7499943, 23729491, 23923981, 27247958, 28188436, 11045400, 9916796, 16611712, 16769747
NIPBL 26537453, 25209348, 22740382, 23263593, 15318302
SETBP1 20436468
AUTS2
VPS33B 24917129, 18853461, 15052268, 16896922, 22753090
FOXP1 22670142, 20950788, 27657687, 24214399, 25853299, 21572417, 20571508, 26647308, 24267886, 12692134, 27899622
AFF4 25730767
ANKRD11 23494856, 15184363, 15523620, 25125236, 17526801, 28422132, 27667800, 21782149, 17230487, 17508425, 23184435, 23885231, 25356970, 17163996, 25652421, 27435318, 25413698, 25424714
GMPPB 26133662, 23768512, 25681410, 19901254, 25770200
COQ4 18474229, 18579827, 25126048, 16116126, 24270420, 17332895, 21540551, 22368301, 25658047, 26185144, 17485248, 28540186, 21844807
MYO15A 7704031, 7616538, 26242193, 25792667, 18804553, 27375115
TMEM216 20512146, 26092869, 20036350
WAC 21522184, 26264232, 25356899, 23033978, 26325558, 26757981
PTRH2 1063406, 20206336, 29100083, 22511880, 15858577, 15284851, 22831640, 9671304, 24253303, 24234437, 23911319, 16982422, 19348700, 16618797, 11955450, 18762582, 15217342, 26822784, 19854944, 28135719, 24870542, 9147638, 8375651
RAB23 3322002, 25168863, 20358613, 3993675, 15129947, 21412941
TMCO1 24194475, 24424126, 20018682, 23320496
MAGEL2 17728320, 25473036, 24661356, 11891783, 24076603, 8424017, 26365340, 21248145, 19172181, 19066619
DLL4 23570941, 8794055, 10221902, 15466160, 15520367, 17311993, 8756291, 19369401, 20976243, 16773578, 15817497, 15923152, 10837024, 21092311, 12482957, 17296941, 12574630, 15466159, 17336907, 20147986, 11585794, 17728344
SAMD9 16960814, 18094730, 24029230, 27182967
BCOR
NADSYN1 31883644
SETD5 10699187, 17013555, 28866611, 17100993, 12540855, 16086857, 21082655, 23613140, 16919862, 22965684, 15774718, 27334371, 11390661, 23020937, 28881385, 17151600, 24680889, 14681479, 22495311, 19760623, 7477409, 26482601, 12805229, 22986149, 12130538, 27375234
CHD7 20186815, 25472840, 17299439, 21378379, 22461308, 15300250, 18834967, 21532573, 26590800, 15666308, 22495309, 20130577, 16155193, 10590394, 23883829, 16400610, 22539353, 14626219, 17661815, 23849776, 25356970
TRMU 21153446, 25407320, 25665837, 23625533, 25058219, 19732863, 21931168
PACS1 25356970
HHAT 15075292, 24784881, 18534984, 23055936
HDAC8 17640042, 15146186, 15146185, 24403048, 22885700, 22889856, 26671848, 25209348, 19886810, 24718998, 24038889
ZC4H2 26056227, 23623388
ARID1B 26376624, 24569609, 26395437, 22426308, 24267886, 20086098, 25169814, 23906836, 6499251, 25674384, 25356970, 23929686, 24674232, 22426309, 27389779, 28867767, 11170086, 21801163, 16691594, 22405089, 25363768
AARS2 24808023, 21549344, 25058219, 22277967
CHD8 22495306, 28475857, 23160955, 21447119, 22083958, 23835524, 24267886, 24998929, 28600779, 27824329, 18378692, 26789910
ZSWIM6 26706854, 25105228, 29198722
GRHL3 28886269, 28276201, 24360809
TRPV4 24677493, 28898540, 22851605, 20460441, 18587396, 21964574, 27330106, 20037586, 22791502, 11891693, 20503319, 956253, 14755468, 20037587, 21115951, 19232556, 20037588, 1520078, 26249260, 20577006, 20425821, 4056805, 21288981, 25900305
ALX4 22829454, 11137991, 16319823, 11106354, 11017806, 19692347
FKBP10 25931047, 21567934, 20839288, 22949511, 20362275, 22107750, 20696291
PIEZO2 19571066, 24726473, 17345626, 25712306, 27607563, 27912047, 24649842, 23487782, 27653382
ZNF335 26795593, 23178126, 27540107, 19131338, 22495306
CDH23 11138009, 11090341
XYLT2 26987875, 26027496, 28884924, 29136277
IRF2BPL 17627301, 11095982, 28135719, 21444724, 25363768
NSD1 11896389, 17825104, 15942875, 23913520, 23592277, 23599694, 12807965, 14571271, 12464997
BCL11B 19092943, 15465497, 12565905, 21878675, 21912641, 25232744, 19251658, 26453795, 18831712, 25511173, 23112752, 15664173, 24458984, 16091750, 25356899, 23144223, 17631058, 22450536, 22629441
CPLANE1 22425360, 22236771, 25846457, 21679365, 25407461, 24178751
GNPTAB 19634183, 16630736, 19617216, 16200072, 20147709, 19197337, 20367762, 23192343, 26749367
THOC6 19059247, 23621916, 27102954, 26739162, 11060033, 20503307, 15998806
BBS10 21642631, 20805367, 21209035, 11179009, 17980398, 16582908, 21344540, 20120035, 20080638, 22353939, 20498079, 20876674, 20177705, 22713813, 11567139, 16823392, 10874630
WDR26 28686853
ASXL3 27901041, 23383720, 26647312, 28955728, 28100473, 27075689, 24044690, 21706002, 25363760
CLPB 25597511, 25595726, 25597510, 25650066
PHF6 13871358, 27633282, 24092917, 12415272, 14756673, 27094817
COL27A1 19204719, 15922909, 19414009, 17693149, 17331945, 12714037, 24986830, 20041163, 8001137, 7990924, 12766169, 28276056, 22206015
UBE3B 28003368, 23687348, 24615390, 29160006, 12837265, 23200864, 25691420, 28003643
TMEM67 20232449, 25729630, 19508969, 10508989, 25920555, 23559409, 26092869, 19778711, 27491411, 19574260
PKDCC 25171405, 19465597, 23792766, 19097194, 23559552
NDUFAF2 20571988, 10649489, 18180188, 16950771, 20818383, 26795593, 19384974, 16200211, 22644603
TWIST2 26119818, 20691403, 25410422
METTL23 24501276, 24626631
CANT1 21037275, 25486376, 22539336
SPNS2 27899622, 19074308, 25356849
AMER1 20950377, 22043478, 20209645, 19079258, 8723089, 28497491, 7004677, 20679664
B3GALNT2 15645691, 9475091, 7538982, 27666369, 2001103, 12389028
SPRED1 21548021, 3128965, 20339110, 19443465, 19920235, 17704776, 19366998, 22753041, 11493923, 21495177, 21649642, 24334617, 20179001, 21089071
LCA5 10631161, 18000884, 12642313, 17546029
ASXL1 22436456, 21368916, 22419483, 21706002, 15040442, 25921057, 26364555
TUBB 26637975, 23246003, 24833723
ASPM 15806441, 19770472, 18452193, 19028728, 22775483, 27250695, 19332161, 12355089, 20978018, 16141009
CHAMP1 26340335, 26751395, 27148580, 25533962, 21063390
KANSL1 26306646, 22544367, 26293599, 26424144, 22544363
SOX2-OT 20803647, 27427475, 19921648, 16932809, 15812812, 17219395, 16145681, 15578584
KIF7 14738752, 22587682, 21552264, 25714560, 9066878, 23125460, 7424976, 21633164
DIPK1A 19061985
C10orf105 11138009, 11090341
TMEM151B 22277967, 25058219, 24808023, 21549344
TTN-AS1 21810661, 1745277, 23418287, 22335739, 18948003, 10462489, 24395473, 12669942, 23518707, 11717165, 12145747, 21617319, 24105469, 17444505