Multiple congenital anomalies

Disease Term Disease ID Gene Symbol Classification References Source
Multiple congenital anomalies C0000772 HADHA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11773547, 12838198, 26676313, 27117294 -
HDAC8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15146185, 15146186, 17640042, 19886810, 22885700, 22889856, 24038889, 24403048, 24718998, 25209348, 26671848 -
HHAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15075292, 18534984, 23055936, 24784881 -
HIVEP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22294689, 23020937, 26153216, 27003583 -
HNRNPK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8833161, 9218800, 9234727, 10523673, 10817758, 10995551, 11574481, 11867641, 11891683, 12183465, 12853611, 15170860, 15284851, 15364910, 16488668, 18054780, 19170760, 19348700, 19854944, 20116073, 21800092, 22102872, 23455423, 24253303, 24288371, 24501764, 24990929, 26173930, 26954065, 28374925 -
HNRNPR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9421497, 11773003, 14623865, 15822126, 15858414, 16757948, 17603806, 19015982, 20167579, 20382278, 20584894, 20795951, 22366783, 22498899, 23734093, 23756437, 23934111, 25338097 -
HRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12210337, 14608654, 16155195, 16170316, 17250658, 18470943, 22317973, 25914166, 28390077, 29073591 -
IQCE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3719536, 9399901, 18799693, 19810119, 22495311, 22981989, 23719536, 24582806, 25348401, 27626380, 28224613, 28488682 -
IRF2BPL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11095982, 17627301, 21444724, 25363768, 28135719 -
ITPR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11445634, 12611586, 14981189, 17030759, 17590087, 18579805, 21367767, 22986007, 23495097, 25574826, 25794864, 26770814, 27108798, 28488678 -
JAK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25356970 -
KANSL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22544363, 22544367, 26293599, 26306646, 26424144 -
KAT6B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22077973, 22265014, 22715153, 23436491, 25424711, 26334766, 28696035, 29226580 -
KCNH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10220144, 11136691, 12925462, 15828882, 15840476, 16414944, 16926178, 17210839, 18835466, 19716085, 21130771, 24400717, 25974115, 27761161 -
KDM6A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9499428, 15690368, 15690370, 17178841, 18434530, 19330029, 21280141, 21658225, 21671394, 22192413, 22197486, 23076834, 23354975, 23913813, 24527667, 24664873, 27302555 -
KIF1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21376300, 21487076, 21820098, 22258533, 25265257, 25585697, 26125038, 26354034, 26410750, 26486474, 27034427, 28332297, 28362824, 28708278, 28835676 -
KIF7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7424976, 9066878, 14738752, 21552264, 21633164, 22587682, 23125460, 25714560 -
KMT2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2738900, 7583381, 7802037, 8361504, 8634439, 12453418, 20541448, 20711175, 22077973, 22197486, 22795537, 23457195, 24886118, 25186178, 25574841, 25724810, 25810209, 25929198, 26795593, 27759909, 27777327, 28359930 -
KMT2D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3067577, 9285441, 12482968, 14608645, 14699623, 16603732, 20711175, 21280141, 21658225, 21671394, 22126750, 22304445, 23320472, 25972376, 26049589, 26194542, 26898171, 27568880, 27573763, 27778401, 27991736, 28256057, 28295206, 28884889, 28884922 -
KRT12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9399908, 19337156 -
KYNU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28792876 -
LCA5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10631161, 12642313, 17546029, 18000884 -
LEFTY2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10053005 -
LRP5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11719191, 12054167, 12579474, 15346351, 15824851, 20652025, 22487062, 28111184, 28677207 -
MAGEL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8424017, 11891783, 17728320, 19066619, 19172181, 21248145, 24076603, 24661356, 25473036, 26365340 -
MAN2B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7307317, 9758606, 12816222, 18651971, 22161967, 26048034 -
MED12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8279489, 10405444, 16700052, 17036352, 17103446, 17334363, 17369503, 20507344, 20970104, 23395478, 24039113, 25644381, 26273451, 26338144 -
MED13L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 5167861, 14638541, 23403903, 24267886, 24781760, 24896178, 25137640, 25167861, 25356899, 25712080, 25758992, 27899622, 28371282, 28588821, 28645799, 29159987 -
MEF2C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17959722, 18579729, 19471318, 19592390, 20513142, 22495311, 22498567, 22670137, 23389741, 27255693 -
METTL23 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24501276, 24626631 -
MN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7731705, 7731706, 11094079, 11559848, 12569362, 15870292, 15890672, 18948418, 19344873, 19386590, 19919682, 22436304, 24075189, 25549701 -
MORC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26497905, 26659848, 26912637, 27105897, 27329773, 27794525, 28334961, 28402445, 28581500, 28771897 -
MSMO1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8663358, 20929975, 21285510, 22935719, 23622407, 24144731, 25148791, 25896808 -
MTIF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYO15A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7616538, 7704031, 18804553, 25792667, 26242193, 27375115 -
MYO7A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7870171, 8776602, 8900236, 9171833, 9354784, 9382091, 10094549, 15221449, 17361009, 18181211, 20132242, 21150918, 21174530 -
NADSYN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31883644 -
NDUFAF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10649489, 16200211, 16950771, 18180188, 19384974, 20571988, 20818383, 22644603, 26795593 -
NDUFB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NEB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2838409, 10051637, 12207937, 15221447, 15266303, 15336686, 16917880, 17525139, 19805734, 21724397, 25205138, 27933661 -
NF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1770531, 6025371, 9375928, 10726756, 15221447, 16542390, 16786042, 16835897, 17105749, 17369502, 18172006, 19117870, 19539839, 19920235, 20142468, 21089071, 22041710, 22429592, 22604720, 23047742, 23165953, 23244495, 23354915, 23656349, 23812910, 24219125, 25324428, 25325900, 25951773, 26178382, 26758488, 27170677, 27322474, 28213670 -
NFIA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10518556, 17530927, 19058033, 19763616, 20673863, 22301465, 22542183, 24098143, 24267886, 24462883, 24657733, 27081522 -
NHS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11836358, 14564667, 16736028, 19414485, 21559051, 22229851, 24968223 -
NIPBL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15318302, 22740382, 23263593, 25209348, 26537453 -
NMNAT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12359228, 12574164, 14516279, 16118205, 20943658, 21615689, 21940452, 22842230, 23082226, 24284888, 24840802, 25560765, 28035283 -
NODAL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8429908, 8610013, 9354794, 11709181, 16721152, 19064609, 19553149, 19933292, 22352765, 25298693 -
NOTCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10221902, 10946361, 16025100, 16729972, 17662764, 18593716, 19597493, 19610107, 21457232, 22245843, 22318994, 23578328, 23613382, 24273032, 24862819, 25132448, 25914885, 25963545, 28160419 -
NR2F2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10215630, 15750894, 16251273, 18371933, 18798693, 21172461, 24702427, 24702954, 26633542, 28135719 -
NRP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NRXN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18057082 -