Dysmorphic features

Disease Term Disease ID Gene Symbol Classification References Source
Dysmorphic features C0432072 EHMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15805155, 16826528, 19264732, 22670141, 22726846, 24779060, 26808425, 29160022 -
ELN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8132745, 10942104, 11175284, 15955094, 18348261, 19194475, 21309044, 23442826, 27866049 -
EP300 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11331617, 12114483, 13983033, 15706485, 16428436, 17220215, 17299436, 18792986, 19353645, 20014264, 20717166, 24352918, 24476420, 25712426, 26279656, 26486927, 27465822, 27648933, 27964710 -
ERCC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1372469, 10767341, 18628313, 19894250, 23428416, 26204423, 26749132 -
ERF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20643727, 23354439, 27738187 -
EXOC6B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26669664 -
EYA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15735644, 17567890, 27142990 -
EZH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9781912, 22177091, 22190405, 22604720, 24214728 -
FBN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3536967, 8563763, 8941093, 11700157, 12651868, 14598350, 15241795, 16273536, 16333834, 16571647, 17253931, 17701892, 20375004, 20591885, 20979188, 21594992, 21594993, 21683322, 23133647, 23278365, 23897642, 24039054, 24635535, 24665001, 25101912, 25736269, 25979247, 26026792, 26787436 -
FBXL4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10531035, 23993193, 23993194, 25868664, 27743463, 28940506 -
FGD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8969170, 11940089, 14560308, 15809997, 16353258, 16688726, 17152066, 19110080, 20082460, 22211847, 24307393 -
FGFR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1519658, 4078868, 7573032, 7987400, 8434615, 9585583, 10067911, 10633130, 10712195, 10735635, 11343323, 11781872, 15793702, 15883293, 16061565, 16501574, 16740155, 18726952, 19610084, 22387015, 24127277, 25209230, 25245177, 25343114, 26362256, 28901406 -
FGFR3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1956068, 4078868, 7670477, 7847369, 8845844, 9450868, 9580776, 9677066, 9950359, 10053006, 10213050, 10602123, 10777366, 12707965, 15241680, 16501574, 17033969, 17935505, 17950653, 18000976, 18328977, 18344207, 19098178, 19449410, 22045636, 22604720, 23165795, 23378035, 23740942, 24864036, 25356217, 25931420, 26028288, 26740388 -
FLG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16444271, 17417636, 20790920, 21173567, 22542183, 24267886 -
FLG-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16444271, 17417636, 20790920, 21173567, 22542183, 24267886 -
FLT4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9817924, 12960217, 15689446, 19002718, 23074044, 24167460 -
FOXG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2760358, 18571142, 19578037, 20356955, 21441262, 22998673, 24766421, 24836831, 25565401, 26344814, 26364767, 27001178, 27029630, 27640358, 28544139 -
FOXP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12692134, 20571508, 20950788, 21572417, 22670142, 24214399, 24267886, 25853299, 26647308, 27657687, 27899622 -
FOXRED1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20818383, 20858599, 22499348, 27215383 -
G6PD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2633878, 7283560, 9427729, 15735168, 18177777 -
GAA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3132435, 8558570, 8990003, 12897283, 15985590, 16702877, 16737883, 17151339, 17853454, 18458862, 19542901, 21631931, 21757382, 23430493, 23531252, 24107549, 25526786, 25673129 -
GABRA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9126483, 11992121, 16718694, 20551311, 21714819, 22190369, 23934111, 24623842, 24811917, 26918889, 27521439 -
GABRB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18514161, 23934111, 24999380, 26645412, 26950270, 26993267, 27476654, 27622563, 28053010, 28544625, 28607477 -
GALNS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7741581, 9189888, 12728175, 16287098, 16539564, 17347914, 21506915, 22358740, 22543891, 23371450, 23385297, 25897204, 27774754, 28428354 -
GHSR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16511605, 19789204, 21646290, 27023906 -
GJA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12457340, 14974090, 16531323, 16816024, 19338053, 19615768, 23675785, 24133447, 25976645, 27226478, 27241686, 28106320 -
GJB2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10369869, 10633135, 10807696, 11493200, 11918723, 12072059, 15040442, 15365987, 15482471, 18804553, 21465647, 25937001, 26940866 -
GJC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15192806, 19056803, 20537300, 21266381, 22610664, 23621851, 24374284 -
GLE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3993672, 18204449, 23421748, 24961629, 25343993, 27684565, 28884921 -
GLI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14581620, 15994174, 20685856, 21204792, 22967285 -
GNAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8383205, 10980525, 11600516, 14561710, 17161328, 18796523, 23281139, 23884777, 25802881, 27431290 -
GNAS-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8383205, 10980525, 11600516, 14561710, 17161328, 18796523, 23281139, 23884777, 25802881, 27431290 -
GNPTAB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16200072, 16630736, 19197337, 19617216, 19634183, 20147709, 20367762, 23192343, 26749367 -
GPD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22226083, 24549054, 28944580 -
GPT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24901346, 25758935, 27601654, 28130718, 29226631 -
GRIN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1834949, 2516786, 6306230, 7679115, 9526012, 16402093, 16600850, 16635252, 17315208, 17910072, 19854944, 20890276, 21376300, 22606296, 22796429, 22974439, 23933818, 23934111, 23937349, 25167861, 25838242, 25864721, 27164704, 28051072, 28389307 -
GUCY2D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10951519, 12365911, 17651254, 19959640, 20517349, 23035049, 24997176, 25515582, 29061346 -
H1-4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23945933, 25081361, 28475857 -
H3-3A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9441765, 10556297, 16472024, 17220215, 19344873, 19348700, 20976243, 21782046, 21937992, 23415232, 25348405, 26139371 -
HDAC8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15146185, 15146186, 17640042, 19886810, 22885700, 22889856, 24038889, 24403048, 24718998, 25209348, 26671848 -
HECW2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16179223, 22604720, 24163370, 25262651, 25363768, 25533962, 25555806, 25961944, 27334371, 27389779 -
HNF4A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8945471, 9371825, 11575290, 17407387, 22654519, 22802087, 24285859 -
HNRNPH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25348405, 25356899, 27545675 -
HNRNPK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8833161, 9218800, 9234727, 10523673, 10817758, 10995551, 11574481, 11867641, 11891683, 12183465, 12853611, 15170860, 15284851, 15364910, 16488668, 18054780, 19170760, 19348700, 19854944, 20116073, 21800092, 22102872, 23455423, 24253303, 24288371, 24501764, 24990929, 26173930, 26954065, 28374925 -
HNRNPU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20382278, 20795951, 21800092, 22678713, 23708187, 23934111, 25356899, 25533962, 25590979, 26845106, 28393272, 28815871, 28944577 -
HPRT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23975452, 25503620, 25612837 -
IRF2BPL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11095982, 17627301, 21444724, 25363768, 28135719 -
KANSL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22544363, 22544367, 26293599, 26306646, 26424144 -
KCNH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10220144, 11136691, 12925462, 15828882, 15840476, 16414944, 16926178, 17210839, 18835466, 19716085, 21130771, 24400717, 25974115, 27761161 -
KCNQ2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6965523, 8327138, 9425895, 9430594, 10323247, 10781098, 11572947, 12742592, 14985406, 15608631, 16829045, 17675531, 17872363, 18238816, 20196795, 22169383, 22275249, 22926866, 23621294, 23849776, 24107868, 24318194, 25982755, 26795593, 26993267, 27602407, 27861786, 28602030, 29129156 -