Multiple congenital anomalies

Disease Term Disease ID Gene Symbol Classification References Source
Multiple congenital anomalies C0000772 EP300 Causal Pathogenic evidence from ClinVar 11331617, 12114483, 13983033, 15706485, 16428436, 17220215, 17299436, 18792986, 19353645, 20014264, 20717166, 24352918, 24476420, 25712426, 26279656, 26486927, 27465822, 27648933, 27964710 ClinVar
AAAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1537368, 6243664, 12752575, 16098009, 18628786, 26622478 -
AARS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21549344, 22277967, 24808023, 25058219 -
ABCC9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10398267, 15034580, 16835932, 17245405, 21344641, 22608503, 22610116, 23307537 -
ACAN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1978986, 12205105, 12626230, 16080123, 17317784, 18226555, 19110214, 20137779, 21948754, 24762113, 27870580 -
ACTB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10411937, 16685646, 22366783, 22495914, 23649928, 23756437, 25052316, 25156961, 27240540, 27868373 -
ACTC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17611253, 17947298, 22464770, 24461919, 27139165 -
ACTG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2395459, 9665849, 13680526, 15194427, 19419963, 22366783, 25052316, 25624931, 26188271, 27240540, 27625340, 28493397, 28496999 -
ACTG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19098683, 22960657, 24337657, 24676022, 25782675, 26669664, 28383543 -
ACVR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8758048, 16642017, 19085907, 26436010 -
ADNP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11013255, 22495309, 23160955, 24531329, 25057125, 25169753, 26637798, 26845707, 27031564, 28191889, 28221363 -
AFF4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25730767 -
ALX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11017806, 11106354, 11137991, 16319823, 19692347, 22829454 -
AMER1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7004677, 8723089, 19079258, 20209645, 20679664, 20950377, 22043478, 28497491 -
ANKRD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15184363, 15523620, 17163996, 17230487, 17508425, 17526801, 21782149, 23184435, 23494856, 23885231, 25125236, 25356970, 25413698, 25424714, 25652421, 27435318, 27667800, 28422132 -
ANOS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1913827, 1922361, 7820942, 10340754, 11390716, 15471890, 25300141 -
ARID1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6499251, 11170086, 16691594, 20086098, 21801163, 22405089, 22426308, 22426309, 23906836, 23929686, 24267886, 24569609, 24674232, 25169814, 25356970, 25363768, 25674384, 26376624, 26395437, 27389779, 28867767 -
ARNTL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24652800 -
ASPM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12355089, 15806441, 16141009, 18452193, 19028728, 19332161, 19770472, 20978018, 22775483, 27250695 -
ASXL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15040442, 21368916, 21706002, 22419483, 22436456, 25921057, 26364555 -
ASXL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21706002, 23383720, 24044690, 25363760, 26647312, 27075689, 27901041, 28100473, 28955728 -
ATP1A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2842249, 8496742, 11020638, 15260953, 16632466, 19652145, 22534615, 22842232, 22850527, 22924536, 22933743, 23483595, 24123283, 24436111, 24468074, 24739246, 24996492, 25359261, 25656163, 25895915, 25996915, 26297560, 26400718, 26410222, 27091223, 28293679, 29184165 -
ATP6V1B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7499943, 9916796, 11045400, 16611712, 16769747, 23729491, 23923981, 27247958, 28188436 -
ATP8B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9500542, 19479804, 19918981, 20852622, 23060447, 25737299 -
ATRX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1415255, 10398237, 10417298, 10570185, 10602370, 11015451, 11050622, 12032728, 12116232, 12673795, 12858175, 16118346, 16722615, 16813605, 18409179, 19005673, 21653732, 24289169, 24805811, 28371197, 28371217 -
AUTS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B3GALNT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2001103, 7538982, 9475091, 12389028, 15645691, 27666369 -
BBS10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10874630, 11179009, 11567139, 16582908, 16823392, 17980398, 20080638, 20120035, 20177705, 20498079, 20805367, 20876674, 21209035, 21344540, 21642631, 22353939, 22713813 -
BCL11B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12565905, 15465497, 15664173, 16091750, 17631058, 18831712, 19092943, 19251658, 21878675, 21912641, 22450536, 22629441, 23112752, 23144223, 24458984, 25232744, 25356899, 25511173, 26453795 -
BCOR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BMP7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17003840, 20506283, 24429398 -
BPTF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8521501, 9225734, 11583616, 14609955, 16264191, 16728978, 16774993, 18334252, 18794365, 18848651, 18974875, 19713963, 22166941, 22366787, 22426308, 24700502, 26014595, 27513193, 28942966 -
BRAF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 4386970, 5771505, 16523510, 16825433, 18039235, 18413255, 19206169, 23875798 -
C10orf105 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11090341, 11138009 -
CACNA1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1564484, 3358708, 8898206, 8988170, 9005860, 9302278, 9403487, 9436730, 9559993, 9879686, 11179022, 11564488, 11723274, 12707077, 14718690, 15300451, 15483044, 15710862, 16043807, 16325861, 16595610, 17142831, 17495624, 17575281, 18498393, 18541804, 18940563, 19484318, 19811514, 20097664, 20129625, 20156848, 20204399, 20233618, 20682717, 21183743, 22249839, 23441182, 23771276, 23831250, 23934111, 25735478, 25758715, 26814174, 27476654, 28742085 -
CANT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21037275, 22539336, 25486376 -
CASK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19165920, 19377476, 20029458, 21498811, 21954287, 22452838, 22495306, 22709267, 23623288, 23662938, 24768552, 24781210, 25886057 -
CCND2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15627943, 16766701, 17486076, 19641124, 22228622, 22500628, 22729222, 22729223, 22729224, 23624932, 24705253, 26520804, 28941273 -
CDC42 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7473653, 8103286, 10898977, 11025683, 11149925, 11864373, 12195014, 12478284, 12687501, 12915473, 14561717, 15269155, 15884002, 16949823, 17050694, 17540168, 17918734, 17970806, 18245432, 18511961, 19092927, 19700661, 20633244, 20878268, 21423166, 21515363, 22266952, 23382385, 24059268, 26386261 -
CDH23 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11090341, 11138009 -
CDK13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19344873, 24999027, 25560765, 26539891, 27479907, 28135719, 28807008, 29021403, 29222009 -
CECR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11693792 -
CHAMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21063390, 25533962, 26340335, 26751395, 27148580 -
CHD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20693977, 22302795, 24348274, 25849321, 26116663, 27418512, 27479907, 27616479, 28135719 -
CHD7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10590394, 14626219, 15300250, 15666308, 16155193, 16400610, 17299439, 17661815, 18834967, 20130577, 20186815, 21378379, 21532573, 22461308, 22495309, 22539353, 23849776, 23883829, 25356970, 25472840, 26590800 -
CHD8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18378692, 21447119, 22083958, 22495306, 23160955, 23835524, 24267886, 24998929, 26789910, 27824329, 28475857, 28600779 -
CHEK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11719428, 15122511, 15492928, 16078115, 16551709, 18004398, 18759107, 19338683, 21807500, 21876083, 22058428, 23296741, 25467110, 26506619 -
CHMP1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11559747, 11559748, 23023333 -
CHRNG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16826531, 22167768, 24038971, 25957469, 27245440 -
CHUK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20961246 -