| Multiple congenital anomalies |
C0000772 |
SMARCA4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
20137775, 22426308, 23637025, 23775540, 23815551, 23929686, 24658001, 28608987 |
- |
|
SMARCB1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22426308, 23815551, 23906836, 23929686, 25168959 |
- |
|
SMARCE1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
SMC1A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
7757074, 16604071, 17221863, 17273969, 19842212, 20635401, 22106055, 23106691, 24896178, 25537356, 26354354, 26358754, 26386245, 26752331, 28102598, 28548707 |
- |
|
SON
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
1944255, 3054499, 9185665, 10509013, 10950926, 11306577, 12606581, 16033648, 19961433, 20053686, 20581448, 20976243, 21504830, 22193954, 22948023, 23001566, 23033978, 23416452, 23424103, 23595291, 23603762, 24013217, 24896178, 25533962, 25590979, 25782155, 27545676, 27545680 |
- |
|
SOS1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
11868160, 16773572, 17143282, 17143285, 17510059, 17586837, 18651097, 19020799, 19077116, 19438935, 19467855, 21387466, 21396583, 21784453, 22551697, 22604720, 23165751, 25073238, 25180280, 26249544, 26708403 |
- |
|
SOX11
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
15254231, 24886874, 26543203 |
- |
|
SOX2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
15578584, 15812812, 16145681, 16932809, 17219395, 19921648, 20803647, 27427475 |
- |
|
SOX2-OT
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
15578584, 15812812, 16145681, 16932809, 17219395, 19921648, 20803647, 27427475 |
- |
|
SPNS2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
19074308, 25356849, 27899622 |
- |
|
SPRED1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
3128965, 11493923, 17704776, 19366998, 19443465, 19920235, 20179001, 20339110, 21089071, 21495177, 21548021, 21649642, 22753041, 24334617 |
- |
|
SRCAP
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22265015, 22965468, 23621943, 23708140, 23763483, 24970356, 25433523, 26788936 |
- |
|
STAG1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22542183, 22604720, 23020937, 24896178, 28119487 |
- |
|
STAT3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
17881745, 18602572, 20159255, 22520845, 22751495, 25038750, 25359994, 26343524, 26394394, 28073828, 29180260 |
- |
|
SYNGAP1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
15312654, 19196676, 20531469, 21237447, 21376300, 22604720, 23020937, 23033978, 23141534, 23161826, 23708187, 23934111, 24267886, 25533962, 26079862, 26989088, 27827368, 28576131 |
- |
|
TBCE
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
2001103, 7538982, 9475091, 12389028, 15645691, 27666369 |
- |
|
TFAP2A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
7747785, 19764023, 20358615, 21204207, 23578821, 25590586 |
- |
|
TGDS
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
14564220, 18501694, 21834032, 24326962, 25480037, 26366375, 28422407 |
- |
|
THOC6
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
11060033, 15998806, 19059247, 20503307, 23621916, 26739162, 27102954 |
- |
|
THRA
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
22168587, 22494134, 22604720, 23633213, 23940126, 24969835, 25670821, 26037512, 27144938 |
- |
|
TMCO1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
20018682, 23320496, 24194475, 24424126 |
- |
|
TMEM151B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21549344, 22277967, 24808023, 25058219 |
- |
|
TMEM216
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
20036350, 20512146, 26092869 |
- |
|
TMEM67
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
10508989, 19508969, 19574260, 19778711, 20232449, 23559409, 25729630, 25920555, 26092869, 27491411 |
- |
|
TP63
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21466819 |
- |
|
TRIO
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
8643598, 22495306, 23033978, 24038936, 25363760, 25533962, 26721934, 27418539, 28928363 |
- |
|
TRMU
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
19732863, 21153446, 21931168, 23625533, 25058219, 25407320, 25665837 |
- |
|
TRPS1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
10615131, 11112658, 14560312, 24709795, 25792522 |
- |
|
TRPV4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
956253, 1520078, 4056805, 11891693, 14755468, 18587396, 19232556, 20037586, 20037587, 20037588, 20425821, 20460441, 20503319, 20577006, 21115951, 21288981, 21964574, 22791502, 22851605, 24677493, 25900305, 26249260, 27330106, 28898540 |
- |
|
TTN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
1745277, 10462489, 11717165, 12145747, 12669942, 17444505, 18948003, 21617319, 21810661, 22335739, 23418287, 23518707, 24105469, 24395473 |
- |
|
TTN-AS1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
1745277, 10462489, 11717165, 12145747, 12669942, 17444505, 18948003, 21617319, 21810661, 22335739, 23418287, 23518707, 24105469, 24395473 |
- |
|
TUBA1A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
17584854, 18669490, 18728072, 18954413, 20466733, 22264709, 23361065, 23528852, 24860126, 25008804, 26795593 |
- |
|
TUBB
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
23246003, 24833723, 26637975 |
- |
|
TUBB3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
20074521, 20829227, 23378218, 23503589, 24257358, 24612975, 25059107, 25482575, 25559402, 26639658 |
- |
|
TWIST2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
20691403, 25410422, 26119818 |
- |
|
UBE3B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
12837265, 23200864, 23687348, 24615390, 25691420, 28003368, 28003643, 29160006 |
- |
|
USH2A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
10729113, 10775529, 11311042, 12525556, 15325563, 17296898, 18665195, 20145675, 21174530, 21234346, 22495311, 23352160, 24160897, 24944099, 25649381 |
- |
|
VAX2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
7499943, 9916796, 11045400, 16611712, 16769747, 23729491, 23923981, 27247958, 28188436 |
- |
|
VPS33B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
15052268, 16896922, 18853461, 22753090, 24917129 |
- |
|
VRK1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
25356970 |
- |
|
VWF
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
2563148, 3495304, 11686102, 16634745, 16862529, 16889557, 16985174, 17190853, 19372260, 22197721, 23401897, 24319188, 26288715 |
- |
|
WAC
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21522184, 23033978, 25356899, 26264232, 26325558, 26757981 |
- |
|
WDR26
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
28686853 |
- |
|
WDR45
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
20562859, 23176820, 23435086, 23687123, 24621584, 24847269, 25263061, 25592411, 26173968, 28932395 |
- |
|
XYLT2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
26027496, 26987875, 28884924, 29136277 |
- |
|
ZBTB18
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
9568537, 9756912, 10567577, 11179890, 11350943, 11854316, 14681759, 17447250, 17668379, 19409883, 20059953, 20382278, 20672375, 21800092, 21934713, 22095278, 22234186, 22513377, 22678713, 23020937, 23494996, 24193349, 24614070, 25131622, 26740508, 27598823 |
- |
|
ZC4H2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
23623388, 26056227 |
- |
|
ZEB2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
16053902, 17958891, 19764019, 19842203, 21343952, 26721324, 26809768, 27831545 |
- |
|
ZMYND11
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
16565076, 22847950, 23372760, 24267886, 24590075, 24963723, 25217958, 25281490 |
- |
|
ZNF335
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
19131338, 22495306, 23178126, 26795593, 27540107 |
- |