Dysmorphic features

Disease Term Disease ID Gene Symbol Classification References Source
Dysmorphic features C0432072 AARS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21549344, 22277967, 24808023, 25058219 -
ABCC9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10398267, 15034580, 16835932, 17245405, 21344641, 22608503, 22610116, 23307537 -
ACAN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1978986, 12205105, 12626230, 16080123, 17317784, 18226555, 19110214, 20137779, 21948754, 24762113, 27870580 -
ACTA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11333380, 12601110, 15236405, 15468086, 16967490, 19562689, 23650303, 25890230, 26507755 -
ACTB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10411937, 16685646, 22366783, 22495914, 23649928, 23756437, 25052316, 25156961, 27240540, 27868373 -
ACTG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2395459, 9665849, 13680526, 15194427, 19419963, 22366783, 25052316, 25624931, 26188271, 27240540, 27625340, 28493397, 28496999 -
ADCY5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1618857, 8415621, 8429907, 8511718, 10051231, 12223546, 12503609, 12665504, 22539851, 22782511, 23449625, 24700542, 25193033, 25379658, 25790160, 26085604, 26537056, 26686870, 27052971, 27061943, 28229249, 28511835 -
ADGRG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12730993, 16240336, 19016831, 20929962, 21349848, 21708946, 23981349, 24531968, 25607655, 25642806 -
ADNP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11013255, 22495309, 23160955, 24531329, 25057125, 25169753, 26637798, 26845707, 27031564, 28191889, 28221363 -
AKT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10208883, 15627943, 21159799, 21800092, 22228622, 22729224, 25523067, 28190287 -
ALDH7A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8913181, 16159904, 16491085, 17068770, 17088338, 18762976, 19142996, 20554659, 23350806 -
ALX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11017806, 11106354, 11137991, 16319823, 19692347, 22829454 -
AMER1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7004677, 8723089, 19079258, 20209645, 20679664, 20950377, 22043478, 28497491 -
ANKRD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15184363, 15523620, 17163996, 17230487, 17508425, 17526801, 21782149, 23184435, 23494856, 23885231, 25125236, 25413698, 25424714, 25652421, 27435318, 27667800, 28422132 -
ANOS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1913827, 1922361, 7820942, 10340754, 11390716, 15471890, 25300141 -
AP4B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19559397, 20972249, 21620353, 22290197, 23167973, 23472171, 24395635, 24700674, 25552650, 25693842 -
AP4S1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19559397, 20972249, 21620353, 23167973, 23472171, 24395635, 24700674, 24781758, 25552650, 27444738, 28150420 -
ARID1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6499251, 11170086, 16691594, 20086098, 21801163, 22405089, 22426308, 22426309, 23906836, 23929686, 24267886, 24569609, 24674232, 25169814, 25363768, 25674384, 26376624, 26395437, 27389779, 28867767 -
ARID2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15985610, 26238514, 28124119, 28884947 -
ARX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1605226, 3177452, 10398246, 11971879, 12379852, 14722918, 17668384, 19439424, 20506206, 22252899, 23246292, 25044608, 27781032, 28150386 -
ASPM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12355089, 15806441, 16141009, 18452193, 19028728, 19332161, 19770472, 20978018, 22775483, 27250695 -
ASXL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15040442, 21368916, 21706002, 22419483, 22436456, 25921057, 26364555 -
ASXL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21706002, 23383720, 24044690, 25363760, 26647312, 27075689, 27901041, 28100473, 28955728 -
ATP13A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16964263, 17485642, 20683840, 20853184, 21060012, 21665991, 22198378, 22388936, 25149416, 25197640 -
ATP1A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2842249, 8496742, 11020638, 15260953, 16632466, 19652145, 22534615, 22842232, 22850527, 22924536, 22933743, 23483595, 24123283, 24436111, 24468074, 24739246, 24996492, 25359261, 25656163, 25895915, 25996915, 26297560, 26400718, 26410222, 27091223, 28293679, 29184165 -
ATP6V1B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7499943, 9916796, 11045400, 16611712, 16769747, 23729491, 23923981, 27247958, 28188436 -
ATRX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1415255, 10398237, 10417298, 10570185, 10602370, 11015451, 11050622, 12032728, 12116232, 12673795, 12858175, 16118346, 16722615, 16813605, 18409179, 19005673, 21653732, 24289169, 24805811, 28371197, 28371217 -
AUH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12655555, 15033206, 16354225, 20855850 -
AVPR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10477148, 15129813, 15872203, 18584216, 20459358, 22386940, 22427315, 26077742, 26131744 -
B3GALNT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2001103, 7538982, 9475091, 12389028, 15645691, 23453667, 24084573, 27666369 -
B4GALNT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23746551, 24103911, 24283893 -
BBS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17574030, 21344540, 22713813 -
BCL11A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10744719, 11161790, 11347906, 12196208, 12717432, 15465497, 15548577, 16704730, 17021036, 17964244, 19616629, 20623620, 22491945, 22542183, 23230003, 24267886, 24810580, 25363760, 25533962, 25938782, 25979662, 26182416, 27453576, 28589569, 28960836 -
BCL11B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12565905, 15465497, 15664173, 16091750, 17631058, 18831712, 19092943, 19251658, 21878675, 21912641, 22450536, 22629441, 23112752, 23144223, 24458984, 25232744, 25356899, 25511173, 26453795 -
BPTF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8521501, 9225734, 11583616, 14609955, 16264191, 16728978, 16774993, 18334252, 18794365, 18848651, 18974875, 19713963, 22166941, 22366787, 22426308, 24700502, 26014595, 27513193, 28942966 -
BRAF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 4386970, 5771505, 16439621, 16474404, 16523510, 16825433, 18039235, 18413255, 19206169, 23875798 -
BRAT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16452482, 22279524, 23035047, 26494257, 26535877, 27282546, 27282648, 27480663, 28635423 -
BRCA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9497246, 12677558, 15197194, 15796958, 16141007, 16825431, 17416853, 18042939, 21568838, 21952622 -
BRPF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27939639, 27939640 -
BTD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9654207, 11668630, 13680408, 17382128, 22241090, 22698809, 26577040, 26810761, 27014582, 27657684 -
CACNA1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1564484, 3358708, 8898206, 8988170, 9005860, 9302278, 9403487, 9436730, 9559993, 9879686, 11179022, 11564488, 11723274, 12707077, 14718690, 15300451, 15483044, 15710862, 16043807, 16325861, 16595610, 17142831, 17495624, 17575281, 18498393, 18541804, 18940563, 19484318, 19811514, 20097664, 20129625, 20156848, 20204399, 20233618, 20682717, 21183743, 22249839, 23441182, 23771276, 23831250, 23934111, 25735478, 25758715, 26814174, 27476654, 28742085 -
CAMTA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16678093, 17470457, 17537720, 22031302, 22693284, 24145135, 24738973, 25049392 -
CASK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19165920, 19377476, 20029458, 21498811, 21954287, 22452838, 22495306, 22709267, 23623288, 23662938, 24768552, 24781210, 25886057 -
CASR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20846291, 26855056, 28122587 -
CBL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20543203, 20619386, 20694012, 22266821, 25952305, 26152360, 28589114 -
CCND2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15627943, 16766701, 17486076, 19641124, 22228622, 22500628, 22729222, 22729223, 22729224, 23624932, 24705253, 26520804, 28941273 -
CDC42 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7473653, 8103286, 10898977, 11025683, 11149925, 11864373, 12195014, 12478284, 12687501, 12915473, 14561717, 15269155, 15884002, 16949823, 17050694, 17540168, 17918734, 17970806, 18245432, 18511961, 19092927, 19700661, 20633244, 20878268, 21423166, 21515363, 22266952, 23382385, 24059268, 26386261 -
CDK13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19344873, 24999027, 25560765, 26539891, 27479907, 28135719, 28807008, 29021403, 29222009 -
CDKL5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15492925, 18266744, 19241098, 19471977, 19793311, 21775177, 22670135, 22678952, 22779007, 22872100, 23151060, 23583054, 24564546, 24916645, 25266480, 26708753, 27528505 -
CEP63 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15284851, 15793586, 16829198, 19344873, 19348700, 19829375, 19854944, 20598275, 21406398, 21983783, 22775483, 23936128, 25348405, 26158450, 26400686 -