Multiple congenital anomalies

Disease Term Disease ID Gene Symbol Classification References Source
Multiple congenital anomalies C0000772 CLPB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25595726, 25597510, 25597511, 25650066 -
CLTC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1063406, 8375651, 9147638, 9671304, 11955450, 15217342, 15284851, 15858577, 16618797, 16982422, 18762582, 19348700, 19854944, 20206336, 22511880, 22831640, 23911319, 24234437, 24253303, 24870542, 26822784, 28135719, 29100083 -
COL11A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9529347, 17236192, 19449424, 21035103, 21668896, 25240749 -
COL11A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 813535, 2463256, 2760050, 7859284, 8838804, 9188673, 9506662, 9805126, 10353778, 10486316, 10581026, 10677296, 10733181, 16033917, 16637051, 21671392, 22246659 -
COL1A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 458828, 2010058, 2824475, 8071956, 9295084, 9557891, 15077201, 17078022, 21344539, 21801164, 21912751, 24140640, 24668929, 25944380, 28625337, 28916840 -
COL27A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7990924, 8001137, 12714037, 12766169, 15922909, 17331945, 17693149, 19204719, 19414009, 20041163, 22206015, 24986830, 28276056 -
COL2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1971141, 9724608, 10353778, 12848929, 12925722, 20179744, 20513134, 22791362, 25604898, 26250472, 26345137, 26358419, 26626311 -
COQ4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16116126, 17332895, 17485248, 18474229, 18579827, 21540551, 21844807, 22368301, 24270420, 25126048, 25658047, 26185144, 28540186 -
CPLANE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21679365, 22236771, 22425360, 24178751, 25407461, 25846457 -
CREBBP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10699051, 12070251, 12114483, 13983033, 15706485, 16021471, 16783566, 18792986, 25108505, 25388907, 25599811, 26603346, 26788536, 26956253, 27165009, 27311832, 27342041, 27899622 -
CSF1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6595937, 8981357, 18794495, 19487654, 22098561, 22197934, 22843259, 23408870, 23411710, 23649896, 23816250, 24145216, 24336230 -
CTCF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18654629, 19563753, 22354838, 23746550, 28135719, 28619046 -
CTNNB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1999432, 8227220, 8582267, 9060476, 11719191, 15713948, 15866163, 15866164, 18334222, 21903672, 22110128, 22495309, 22682243, 22975441, 23033978, 23499309, 24431282, 24614104, 24668549, 25326669, 25533962, 27915094, 28575650 -
CUL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3002982, 10500095, 15071497, 15136734, 15511641, 15843622, 16162871, 16595883, 17559828, 18687424, 18927510, 20065088, 20880695, 21554755, 22266938, 22495309, 22914163, 23665959, 23676014, 24266877, 24267886, 24959344, 25363760, 25969726, 27824329 -
CYP21A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9521938, 10857554, 12930931, 15964450, 23359698, 23692712, 24778650, 24904866, 25041270 -
DDX3X Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2563148, 9381176, 15572142, 15772666, 16518819, 17979704, 18463129, 22722829, 23413191, 24267886, 25050112, 25326669, 25533962, 25724843, 26235985, 28371085 -
DHCR7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8259166, 9024557, 10677299, 10807690, 11241839, 11562938, 15286151, 15464432, 16761297, 16906538, 18285838, 21777499, 22438180, 23042628, 23293579, 23918729 -
DIPK1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19061985 -
DLL4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8756291, 8794055, 10221902, 10837024, 11585794, 12482957, 12574630, 15466159, 15466160, 15520367, 15817497, 15923152, 16773578, 17296941, 17311993, 17336907, 17728344, 19369401, 20147986, 20976243, 21092311, 23570941 -
DNAH5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11788826, 12615011, 16627867, 19357118, 23261302, 24267886 -
DNMT3A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1423634, 2717398, 10325416, 10433969, 10555141, 10647011, 11399089, 12138111, 12359337, 12575993, 15063176, 15672446, 15739230, 16357870, 16501171, 16725135, 17445268, 17878930, 19344873, 19854944, 20228804, 20651149, 20729844, 21067377, 21507354, 21844811, 22495306, 23849776, 24614070, 26866722, 27701732, 27991732, 28386848, 28475857, 28667884, 28941052 -
DOCK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3372592, 17670792, 17765544, 18332221, 18591431, 18820033, 20829512, 25022758, 26527617, 27662902 -
DVL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17256787, 25817014, 25817016 -
DYRK1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2143053, 12192061, 12814361, 17237124, 18364031, 18405873, 19383720, 19685005, 21204217, 21294719, 22918246, 23099646, 23512985, 25167861, 25707398, 25920557, 25944381, 26922654 -
ECEL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23236030, 23261301, 24782201, 25099528, 25708584 -
ECHS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25125611, 25393721, 26000322, 26081110, 26099313, 26920905, 27090768, 27221955, 27905109, 28039521, 28106320, 28202214, 28409271, 28755360 -
EFNB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8669441, 15124102, 15166289, 15363810, 15959873, 16143553, 16685650, 23335590, 24281372, 25486017, 26180728, 28140668 -
EFTUD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16760738, 19921636, 22305528, 22541558, 22581936, 23188108, 23239648, 23879989, 24266672, 24470203, 25735261, 25790162, 26118977, 26507355, 27670155 -
ETV6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25356970 -
FBN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3536967, 8563763, 8941093, 11700157, 12651868, 14598350, 15241795, 16273536, 16333834, 16571647, 17253931, 17701892, 20375004, 20591885, 20979188, 21594992, 21594993, 21683322, 23133647, 23278365, 23897642, 24039054, 24635535, 24665001, 25101912, 25736269, 25979247, 26026792, 26787436 -
FGD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8969170, 11940089, 14560308, 15809997, 16353258, 16688726, 17152066, 19110080, 20082460, 22211847, 24307393 -
FGFR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1519658, 4078868, 7573032, 7987400, 8434615, 9585583, 10067911, 10631169, 10633130, 10712195, 10735635, 11343323, 11781872, 15793702, 15883293, 16061565, 16501574, 16740155, 18726952, 19610084, 22387015, 24127277, 25209230, 25245177, 25343114, 26362256, 28901406 -
FKBP10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20362275, 20696291, 20839288, 21567934, 22107750, 22949511, 25931047 -
FLT4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9817924, 12960217, 15689446, 19002718, 23074044, 24167460 -
FOXG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2760358, 18571142, 19578037, 20356955, 21441262, 22998673, 24766421, 24836831, 25565401, 26344814, 26364767, 27001178, 27029630, 27640358, 28544139 -
FOXP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12692134, 20571508, 20950788, 21572417, 22670142, 24214399, 24267886, 25853299, 26647308, 27657687, 27899622 -
GAA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3132435, 8558570, 8990003, 12897283, 15985590, 16702877, 16737883, 17151339, 17853454, 18458862, 19542901, 21631931, 21757382, 23430493, 23531252, 24107549, 25526786, 25673129 -
GJA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12457340, 14974090, 16531323, 16816024, 19338053, 19615768, 23675785, 24133447, 25976645, 27226478, 27241686, 28106320 -
GJA8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20806042, 26694549, 27785597 -
GLE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3993672, 18204449, 23421748, 24961629, 25343993, 27684565, 28884921 -
GLI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14581620, 15994174, 20685856, 21204792, 22967285 -
GMPPB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19901254, 23768512, 25681410, 25770200, 26133662 -
GNAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8383205, 10980525, 11600516, 14561710, 17161328, 18796523, 23281139, 23884777, 25802881, 27431290 -
GNPTAB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16200072, 16630736, 19197337, 19617216, 19634183, 20147709, 20367762, 23192343, 26749367 -
GPD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22226083, 24549054, 28944580 -
GPER1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21984484 -
GRHL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24360809, 28276201, 28886269 -
GSK3B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22975441 -
GUCY2D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10951519, 12365911, 17651254, 19959640, 20517349, 23035049, 24997176, 25515582, 29061346 -
HAAO Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28792876 -