Disease Term Disease ID Gene Symbol Classification References Source
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 -