Dysmorphic features

Disease Term Disease ID Gene Symbol Classification References Source
Dysmorphic features C0432072 CHAMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21063390, 25533962, 26340335, 26751395, 27148580 -
CHD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17350655, 22495311, 22865819, 23020937, 23708187, 23934111, 24207121, 25284784, 25418537, 25672921, 26754451, 28960266 -
CHD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20693977, 22302795, 24348274, 25849321, 26116663, 27418512, 27479907, 27616479, 28135719 -
CHD7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10590394, 14626219, 15300250, 15666308, 16155193, 16400610, 17299439, 17661815, 18834967, 20130577, 20186815, 21378379, 21532573, 22461308, 22495309, 22539353, 23849776, 23883829, 25472840, 26590800 -
CHD8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18378692, 21447119, 22083958, 22495306, 23160955, 23835524, 24267886, 24998929, 26789910, 27824329, 28475857, 28600779 -
CHMP1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11559747, 11559748, 23023333 -
CHRNB2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28600779 -
CHRNG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16826531, 22167768, 24038971, 25957469, 27245440 -
CIZ1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1674590, 1828536, 1832879, 6304244, 7877693, 7877694, 7962076, 8290576, 8360266, 9294229, 10074457, 11553700, 11879655, 12509422, 14985377, 15509649, 15731758, 17460227, 17463283, 18250322, 19502294, 19633650, 19665976, 20428113, 20700442, 21102612, 21441247, 21926968, 21927001, 22099461, 22233676, 23092955, 23781021, 25262651, 25533962, 26611353, 26648591, 28667181 -
CLN8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25891276, 26657971, 27844444 -
CLTC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1063406, 8375651, 9147638, 9671304, 11955450, 15217342, 15284851, 15858577, 16618797, 16982422, 18762582, 19348700, 19854944, 20206336, 22511880, 22831640, 23911319, 24234437, 24253303, 24870542, 26822784, 28135719, 29100083 -
CNOT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10637334, 11696541, 12215531, 17273961, 20371351, 21897366, 22495309, 23280189, 24267886, 26637982, 26821858, 27824329, 28135719, 28263302 -
COL11A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9529347, 17236192, 19449424, 21035103, 21668896, 25240749 -
COL11A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 813535, 2463256, 2760050, 7859284, 8838804, 9188673, 9506662, 9805126, 10353778, 10486316, 10581026, 10677296, 10733181, 16033917, 16637051, 21671392, 22246659 -
COL1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6876111, 9295084, 10073586, 10739762, 13431894, 15864348, 17078022, 20087402, 21344539, 21801164, 22174522, 22570641, 23047998, 23522764, 23735642, 24389367, 24715559, 24891183, 24964776, 28668235 -
COL1A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 458828, 2010058, 2824475, 8071956, 9295084, 9557891, 15077201, 17078022, 21344539, 21801164, 21912751, 24140640, 24668929, 25944380, 28625337, 28916840 -
COL27A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7990924, 8001137, 12714037, 12766169, 15922909, 17331945, 17693149, 19204719, 19414009, 20041163, 22206015, 24986830, 28276056 -
COL2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1971141, 9724608, 10353778, 12848929, 12925722, 20179744, 20513134, 22791362, 25604898, 26250472, 26345137, 26358419, 26626311 -
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6428250, 12525718, 15882279, 15905400, 16107487, 16374828, 16598045, 17696175, 17938367, 18160688, 19194877, 19840616, 19949034, 21625620, 22574627, 23065703, 23394911, 26220970 -
COL6A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11865138, 15689448, 18852439, 19949035, 20976770, 22426012, 23564457, 24038877, 25204870, 25533456 -
COL7A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3771648, 19026465, 20507384, 26064063 -
COQ4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16116126, 17332895, 17485248, 18474229, 18579827, 21540551, 21844807, 22368301, 24270420, 25126048, 25658047, 26185144, 28540186 -
CPLANE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21679365, 22236771, 22425360, 24178751, 25407461, 25846457 -
CREBBP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10699051, 12070251, 12114483, 13983033, 15706485, 16021471, 16783566, 18792986, 25108505, 25388907, 25599811, 26603346, 26788536, 26956253, 27165009, 27311832, 27342041, 27899622 -
CSF1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6595937, 8981357, 18794495, 19487654, 22098561, 22197934, 22843259, 23408870, 23411710, 23649896, 23816250, 24145216, 24336230 -
CSNK2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17954558, 21761202, 24395637, 27048600, 28135719, 29240241 -
CSTB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12058102, 17158032, 18325013, 21757863, 22154554, 23205931, 26843564, 28378817 -
CTCF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18654629, 19563753, 22354838, 23746550, 28135719, 28619046 -
CTNNB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1999432, 8227220, 8582267, 9060476, 11719191, 15713948, 15866163, 15866164, 18334222, 21903672, 22110128, 22495309, 22682243, 23033978, 23499309, 24431282, 24614104, 24668549, 25326669, 25533962, 27915094, 28575650 -
CUL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3002982, 10500095, 15071497, 15136734, 15511641, 15843622, 16162871, 16595883, 17559828, 18687424, 18927510, 20065088, 20880695, 21554755, 22266938, 22495309, 22914163, 23665959, 23676014, 24266877, 24267886, 24959344, 25363760, 25969726, 27824329 -
CUL4B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10978355, 17236139, 17273978, 19818632, 20002452, 20655035, 21816345, 24898194, 25385192, 28817236 -
DDX3X Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2563148, 9381176, 15572142, 15772666, 16518819, 17979704, 18463129, 22722829, 23413191, 24267886, 25050112, 25326669, 25533962, 25724843, 26235985, 28371085 -
DEAF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21076407, 22442688, 23020937, 23372760, 24668509, 24726472, 26048982, 26834045, 28213671, 28940898 -
DHCR7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8259166, 9024557, 10677299, 10807690, 11241839, 11562938, 15286151, 15464432, 16761297, 16906538, 18285838, 21777499, 22438180, 23042628, 23293579, 23918729 -
DLG3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15185169, 19795139, 22659343, 24721225, 25649377, 28777483 -
DNAH5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11788826, 12615011, 16627867, 19357118, 23261302, 24267886 -
DNM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1674590, 1828536, 1832879, 6304244, 7877693, 7877694, 7962076, 8290576, 8360266, 9294229, 10074457, 11553700, 11879655, 12509422, 14985377, 15509649, 15731758, 17460227, 17463283, 18250322, 19502294, 19633650, 19665976, 20428113, 20700442, 21102612, 21441247, 21926968, 21927001, 22099461, 22233676, 23092955, 23781021, 25262651, 25533962, 26611353, 26648591, 28667181 -
DNMT3A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1423634, 2717398, 10325416, 10433969, 10555141, 10647011, 11399089, 12138111, 12359337, 12575993, 15063176, 15672446, 15739230, 16357870, 16501171, 16725135, 17445268, 17878930, 19344873, 19854944, 20228804, 20651149, 20729844, 21067377, 21507354, 21844811, 22495306, 23849776, 24614070, 26866722, 27701732, 27991732, 28386848, 28475857, 28667884, 28941052 -
DOCK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3372592, 17670792, 17765544, 18332221, 18591431, 18820033, 20829512, 25022758, 26527617, 27662902 -
DOCK3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10854253, 10884317, 12432077, 12566533, 14569117, 14682358, 15234347, 15284851, 15494731, 15829629, 17046689, 17055478, 17911219, 19129390, 20368433, 24870542, 24896178, 25016980, 25348405, 25599672, 28139846, 28195318, 29130632 -
DOCK6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23522784, 25724810, 25824905, 28160419, 28884918 -
DOCK7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16982419, 24814191 -
DSCAM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25363768, 26401017, 26749308, 27824329, 28191889, 28600779 -
DUOX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12110737, 16134168, 16322276, 17121535, 17374849, 18765513, 19789206, 20187165, 21565790, 21900383, 23457309, 24423310, 24735383, 27108200, 28666341 -
DYNC1H1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9781046, 15826937, 16519653, 19074350, 21076407, 21820100, 22368300, 22459677, 22847149, 23603762, 24307404, 25609763, 26395554, 26795593, 28193117, 28263302, 28325891, 29243232 -
DYRK1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2143053, 12192061, 12814361, 17237124, 18364031, 18405873, 19383720, 19685005, 21204217, 21294719, 22918246, 23099646, 23512985, 25167861, 25707398, 25920557, 25944381, 26922654 -
EBF3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19627984, 20300201, 28017370, 28017372, 28017373, 28487885, 29062322, 29162653 -
ECEL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23236030, 23261301, 24782201, 25099528, 25708584 -
ECHS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25125611, 25393721, 26000322, 26081110, 26099313, 26920905, 27090768, 27221955, 27905109, 28039521, 28106320, 28202214, 28409271, 28755360 -
EFTUD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16760738, 19921636, 22305528, 22541558, 22581936, 23188108, 23239648, 23879989, 24266672, 24470203, 25735261, 25790162, 26118977, 26507355, 27670155 -