Multiple congenital anomalies

Disease Term Disease ID Gene Symbol Classification References Source
Multiple congenital anomalies C0000772 NSD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11896389, 12464997, 12807965, 14571271, 15942875, 17825104, 23592277, 23599694, 23913520 -
NTRK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22302274, 27676246, 28940190 -
OTX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18728160, 22577225, 24167467 -
PACS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25356970 -
PAX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24676634 -
PDHA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7887408, 10679936, 15384102, 21914562, 23021068, 25526709, 26008863, 26944031, 27144126, 27896109 -
PHF6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12415272, 13871358, 14756673, 24092917, 27094817, 27633282 -
PHF8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16199551, 17594395, 17661819, 18498374, 19843542, 20622853, 25167861 -
PIEZO2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17345626, 19571066, 23487782, 24649842, 24726473, 25712306, 27607563, 27653382, 27912047 -
PIGQ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9463366, 9729469, 10373468, 11418246, 22265715, 24463883, 24852103, 25558065, 25851949 -
PIK3CA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16847462, 17376864, 22228622, 22729224, 23246288, 23754335, 24497998, 25557259, 26301495, 26593112, 27426476, 27631024, 27870750, 28941273 -
PIK3R2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21984976, 22729224, 22989095, 23449172, 23592320, 23606607, 23619167, 23745724, 24497998, 26520804, 26860062, 28086757 -
PKD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9856513, 9856528, 11007674, 11095651, 12707387, 17429049, 22383692, 23376035, 24925719, 26275819, 26364947 -
PKDCC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19097194, 19465597, 23559552, 23792766, 25171405 -
PLCB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16114046, 18314001, 22560091, 23315542, 27007857, 28328130 -
PLP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2479017, 7541901, 8520726, 8780101, 9418954, 11093273, 11761472, 15627202, 16130097, 16778599, 17568416, 27179222 -
POGZ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9862965, 22495311, 22542183, 23375656, 24267886, 24463507, 24896178, 25533962, 25694107, 26739615, 26942287, 27148570, 28480548 -
POLD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23770608 -
PPM1D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18265945, 22065775, 23242139, 24267886, 24911145, 25356970, 26823519, 26847329, 27479843, 28135719, 28343630 -
PPP3CA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3029762, 8052858, 10473536, 10627609, 11461966, 15800199, 20700442, 22015374, 24140049, 25245802, 25262651, 27597899, 28942967 -
PRF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15755897, 16937360, 17266056, 18710388, 21303357, 23443029, 23690113, 26605207 -
PRPS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8498830, 8968763, 12847698, 15955956, 17701896, 20021999, 20380929, 24285972, 24528855, 25491489, 25785835, 26089585 -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11238682, 12844284, 15805158, 17286265, 17392703, 17427195, 18759867, 19265751, 19668082, 21194675, 22252256, 23695273, 24136893, 25022750, 25132236 -
PTPN11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1258892, 1543375, 4025385, 4386970, 8530013, 9222968, 11704759, 12960218, 16523510, 17056636, 17222357, 19206169, 19467855, 21396583, 21500339, 21533187, 26249544, 26297936, 27521173, 27619028 -
PTRH2 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 -
PUF60 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10606266, 10668799, 17579712, 19348700, 19464398, 19854944, 24140112, 24253303, 27804958, 28135719, 28327570, 28990276 -
PYCR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19576563, 19648921, 22052856, 24035636 -
RAB23 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3322002, 3993675, 15129947, 20358613, 21412941, 25168863 -
RAB3GAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15696165, 20512159, 23176487, 23420520 -
RAB3GAP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16532399, 20967465, 23176487, 23420520, 24239381, 24482476 -
RAF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16523510, 17603482, 17603483, 19437094, 20052757, 20876176, 21396583, 21784453, 22389993, 22826437, 23613113, 23877478, 24777450, 26446362, 26903553 -
RAI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15565467, 15788730, 16845274, 17041942, 21857958, 21897445, 25781356, 26544804, 26891008 -
RARB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17506106, 22318625, 24075189, 25457163, 27120018 -
RBFOX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16260614, 25205790, 25753418, 26785492, 27211866, 27485310 -
RBM10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 5410571, 20451169, 21910224, 24259342, 24530524, 28577551 -
RBPJ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RECQL4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16681588, 18647888, 18716613, 19291770, 24635570 -
RIT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20876176, 23791108, 24939608, 25049390, 25124994, 25959749, 26714497, 26757980, 27101134, 27109146 -
RPL5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19061985 -
RPS6KA3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11180593, 12030896, 15668050, 17100996, 20637903, 22495309, 24267886, 24311527, 24859339, 25044551, 26043507 -
SAMD9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16960814, 18094730, 24029230, 27182967 -
SATB2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2918541, 10417281, 12915443, 16751105, 16960803, 17377962, 19576302, 19668335, 23849776, 23925499, 24301056, 24363063, 24896178, 25106414, 25885067, 27409069, 27668656, 28139846, 28151491, 28170089, 28211976 -
SCN5A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9753711, 10471492, 10940383, 11710892, 12736279, 14523039, 15655131, 15840476, 16453024, 16684018, 17210839, 18378609, 19251209, 20100972, 20129283, 22766342, 22840528, 22999724, 25274057 -
SETBP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20436468 -
SETD5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7477409, 10699187, 11390661, 12130538, 12540855, 12805229, 14681479, 15774718, 16086857, 16919862, 17013555, 17100993, 17151600, 19760623, 21082655, 22495311, 22965684, 22986149, 23020937, 23613140, 24680889, 26482601, 27334371, 27375234, 28866611, 28881385 -
SF3B4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18000904, 22541558, 23568615, 24003905, 24715698, 27642715 -
SHOC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19684605, 21548061, 22528146, 23918763, 25137548, 25331583, 25846317 -
SKI Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15884042, 23023332, 23103230, 24736733, 27146836 -
SLC16A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2393019, 12871948, 14661163, 15889350, 18398436, 20628049, 20655035, 21098685, 21896621, 22805248, 23550058, 24629861, 24665922, 25644381, 27672545 -
SMAD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10068469, 11024047, 23665959, 26247899 -