Dysmorphic features

Disease Term Disease ID Gene Symbol Classification References Source
Dysmorphic features C0432072 SCN1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9126059, 10742094, 11359211, 15508915, 15880351, 16430863, 17347258, 17561957, 18413471, 18930999, 19400878, 20879882, 21248271, 21269283, 21463290, 22409937, 22719002, 24097157, 24836964 -
SCN1A-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9126059, 10742094, 11359211, 15508915, 15880351, 16430863, 17347258, 17561957, 18413471, 18930999, 19400878, 20879882, 21248271, 21269283, 21463290, 22409937, 22719002, 24097157, 24836964 -
SCN2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1325650, 1658739, 1658783, 10198179, 11245985, 15048894, 15101391, 15249644, 17386050, 17467289, 18479388, 18809926, 19786696, 20006674, 20196795, 20346423, 20351042, 22029951, 22495306, 22581936, 23020937, 23033978, 23708187, 23827426, 23849776, 23935176, 24267886, 24579881, 25163687, 26291284, 26645390, 26993267, 28256214, 28379373 -
SCN8A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7751906, 9295353, 9828131, 10745221, 16236810, 20196795, 22365152, 23020937, 23708187, 23934111, 24352161, 24874546, 24888894, 25239001, 25725044, 25785782, 25799905, 25914188, 26029160, 26220391, 26252990, 26677014, 26900580, 26993267, 27270488, 28702509 -
SETBP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18398855, 20436468, 21037274, 23020937, 23832012, 24267886, 25028416, 25217958, 25356899, 25663181, 28346496 -
SETD1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16921172, 19700006, 24550110, 24853937, 26974950, 28135719 -
SETD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22495309, 23160955, 24267886, 24852293, 24901346, 25574603, 26084711, 27317772, 28424246 -
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 -
SGSH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12687673, 17938166, 21061399, 21671382, 23385295, 25851924, 27896117, 28921412 -
SHANK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20473310, 21994763, 22346768, 22495306, 22699620, 24267886, 25106414, 25188300, 25560758, 27001614, 27903723, 28326932 -
SHOC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19684605, 21548061, 22528146, 23918763, 25137548, 25331583, 25846317 -
SIN3A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9620804, 9799435, 10022921, 10734093, 10801981, 12150998, 15998811, 16055712, 19505602, 22180641, 24189169, 25527279, 27399968 -
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 -
SLC1A4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1395931, 19963421, 25930971, 26041762, 26138499, 27193218 -
SLC25A4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27693233 -
SLC2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1714544, 10766892, 12752470, 18577546, 19798636, 20129935, 20221955, 20687207, 21555602, 21791420, 21832227, 22492876, 23280796, 23306390, 23443458, 24963779, 26193382, 26304067, 26336901, 26537434, 26598494 -
SLC35A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8889805, 9010752, 23561849, 24115232, 25262651, 25778940, 25877686, 26350515, 26740508 -
SLC52A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23107375, 24253200, 27702554 -
SLC52A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22740598, 22824638, 23107375, 25462087, 26976849 -
SLC6A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9623887, 12451126, 22495306, 23020937, 25865495, 26716362 -
SLC6A8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10893433, 15154114, 15234334, 16738945, 20528887, 20846889, 23644449, 24137762, 24190795, 27081545, 28065824 -
SMAD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15031030, 16613914, 17873119, 22158539, 22243968, 22581936, 22585601, 22846733, 24398790, 24424121, 24715504, 26420300, 27562837 -
SMARCA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8287185, 14564210, 19606471, 22366787, 25169058, 25249037 -
SMARCB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22426308, 23815551, 23906836, 23929686, 25168959 -
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 -
SNHG14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2309781, 8988171, 15263005, 16470747, 17765640, 17940072, 19213023, 22670133, 24876791, 25212744, 25884337, 26219744 -
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 -
SOX9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7485151, 7666392, 9066880, 9452059, 10951468, 12161603, 15754354, 17352389, 19921652, 25983619, 28965976 -
SOX9-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7485151, 7666392, 9066880, 9452059, 10951468, 12161603, 15754354, 17352389, 19921652, 25983619, 28965976 -
SPART Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6022528, 12134148, 15372254, 18997780, 19307600, 20437587, 20719964, 24523286, 25558065, 26003402 -
SPAST Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10610178, 10699187, 11309678, 14681884, 15326248, 17100993, 17101632, 18190593, 19453301, 20562464, 22554690, 23122959, 23438842, 24267886, 24478365, 25065914, 25315759, 26094131, 26208798, 26374131, 26671083 -
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 -
SRD5A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20637498, 20700148, 20852264, 24433453, 26219881, 27480077, 28253385 -
SRD5A3-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20637498, 20700148, 20852264, 24433453, 26219881, 27480077, 28253385 -
STAG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22542183, 22604720, 23020937, 24896178, 28119487 -
SURF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9837813, 16225813, 19780766, 22488715, 23829769, 26443249, 26762927 -
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 -
SYT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7477324, 7954835, 11668675, 12110842, 14715137, 15456828, 15492212, 18275379, 19344873, 19926819, 21307261, 23283333, 24183019, 25698934, 25705886, 25775572, 26030874, 27476655 -
TBCE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2001103, 7538982, 9475091, 12389028, 15645691, 27666369 -
TBL1XR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22495309, 24891185, 25102098, 25425123, 26482601, 26740553, 26769062, 28562391, 28588275, 28687524 -
TBX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1349199, 11748311, 17273972, 18636631, 23996541, 24998776, 25569435, 26056486, 26884814, 27617111 -
TCF20 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17151600, 18351660, 25228304, 25533962, 27436265, 27479843, 28135719 -
TCF4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17436254, 17436255, 17478476, 18081026, 18627065, 18728071, 19235238, 19938247, 20825314, 21245398, 21533127, 21671391, 22045651, 22335494, 22460224, 22581936, 22678594, 22712893, 23185296, 26087656, 27072915, 28807867 -
TFAP2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7747785, 19764023, 20358615, 21204207, 23578821, 25590586 -
TGFBR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15731757, 16928994, 21098638, 21593863, 24793577, 26724507 -