Dysmorphic features

Disease Term Disease ID Gene Symbol Classification References Source
Dysmorphic features C0432072 KDM5C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15586325, 16541399, 17320160, 17468742, 18203167, 18697827, 19826449, 23999528, 24583395, 25666439, 26919706, 27421841 -
KDM6A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9499428, 15690368, 15690370, 17178841, 18434530, 19330029, 21280141, 21658225, 21671394, 22192413, 22197486, 23076834, 23354975, 23913813, 24527667, 24664873, 27302555 -
KIF11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22284827, 24281367, 25115524, 25124931, 25934493, 25996076, 26472404, 27212378, 28494495, 28785766 -
KIF7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7424976, 9066878, 14738752, 21552264, 21633164, 22587682, 23125460, 25714560 -
KMT2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2738900, 7583381, 7802037, 8361504, 8634439, 12453418, 20541448, 20711175, 22077973, 22197486, 22795537, 23457195, 24886118, 25186178, 25574841, 25724810, 25810209, 25929198, 26795593, 27759909, 27777327, 28359930 -
KMT2D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3067577, 9285441, 12482968, 14608645, 14699623, 16603732, 20711175, 21280141, 21658225, 21671394, 22126750, 22304445, 23320472, 25972376, 26049589, 26194542, 26898171, 27568880, 27573763, 27778401, 27991736, 28256057, 28295206, 28884889, 28884922 -
KMT5B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15145825, 22495306, 22542183, 23665959, 25363760, 28135719, 28191889 -
LAMC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21572413, 25525159 -
LIG4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11779494, 15333585, 16088910, 16357942, 17345618, 23372718, 26151233, 26172957, 26762768 -
LINC02245 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1395931, 19963421, 25930971, 26041762, 26138499, 27193218 -
LZTR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16356934, 18072270, 19582488, 22105938, 23401320, 24362817, 25335493, 25480913, 25795793, 27472264, 27856782, 28295212 -
MAGEL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8424017, 11891783, 17728320, 19066619, 19172181, 21248145, 24076603, 24661356, 25473036, 26365340 -
MAN1B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21763484, 24348268, 24566669, 26279649, 26577042 -
MAN2B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7307317, 9758606, 12816222, 18651971, 22161967, 26048034 -
MAP2K1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12239713, 12529707, 16474404, 17704260, 19156172, 20958325, 21654472, 22589294, 22753777, 24101678, 25423878, 27862862 -
MCOLN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9448310, 9680151, 9710036, 11317355, 11461186, 11845410, 11874766, 12182165, 24332805, 25668017, 27357649 -
MECP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8177735, 10508514, 11035019, 11058114, 11227330, 12615169, 15057977, 15558314, 16169931, 16832102, 17236109, 17267601, 17351020, 18337588, 21154482, 23421866, 24399845, 24458799, 27354166 -
MED12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8279489, 10405444, 16700052, 17036352, 17103446, 17334363, 17369503, 20507344, 20970104, 23395478, 24039113, 25644381, 26273451, 26338144 -
MED13L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 5167861, 14638541, 23403903, 24267886, 24781760, 24896178, 25137640, 25167861, 25356899, 25712080, 25758992, 27899622, 28371282, 28588821, 28645799, 29159987 -
MEF2C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17959722, 18579729, 19471318, 19592390, 20513142, 22495311, 22498567, 22670137, 23389741, 27255693 -
MEFV Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 4015155, 5340644, 9288758, 9668175, 11468188, 15868622, 16785446, 20485448, 22878273, 24424166, 25760918, 28386255 -
METTL23 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24501276, 24626631 -
MMACHC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16311595, 16714133, 19370762, 21748409, 25398587, 26283149, 26658511 -
MN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7731705, 7731706, 11094079, 11559848, 12569362, 15870292, 15890672, 18948418, 19344873, 19386590, 19919682, 22436304, 24075189, 25549701 -
MPZ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9595994, 10071056, 10406984, 10553995, 10764043, 11080237, 11835375, 14638973, 15004559, 17663472, 19293842, 21840889, 23290023, 26310628 -
MSL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15988010, 16227571, 20657587, 20943666, 24898753, 25900149, 28135719 -
MTIF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYBPC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7493025, 10424815, 12707239, 18533079, 21492761, 22464770, 23840593 -
NAGLU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15933803, 20852935, 21204211, 25818867 -
NEB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2838409, 10051637, 12207937, 15221447, 15266303, 15336686, 16917880, 17525139, 19805734, 21724397, 25205138, 27933661 -
NEXMIF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15466006, 19524067, 22531377, 23352160, 23615299, 24307393, 25900396, 26290131, 26576034, 27358180, 27568816 -
NF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1770531, 6025371, 9375928, 10726756, 15221447, 16542390, 16786042, 16835897, 17105749, 17369502, 18172006, 19117870, 19539839, 19920235, 20142468, 21089071, 22041710, 22429592, 22604720, 23047742, 23165953, 23244495, 23354915, 23656349, 23812910, 24219125, 25324428, 25325900, 25951773, 26178382, 26758488, 27170677, 27322474, 28213670 -
NFIA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10518556, 17530927, 19058033, 19763616, 20673863, 22301465, 22542183, 24098143, 24267886, 24462883, 24657733, 27081522 -
NGLY1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11562482, 12711318, 17088551, 22581936, 24651605, 27388694 -
NHS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11836358, 14564667, 16736028, 19414485, 21559051, 22229851, 24968223 -
NLGN3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12669065, 15150161, 23849776, 24570023 -
NMNAT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12359228, 12574164, 14516279, 16118205, 20943658, 21615689, 21940452, 22842230, 23082226, 24284888, 24840802, 25560765, 28035283 -
NOTCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10221902, 10946361, 16025100, 16729972, 17662764, 18593716, 19597493, 19610107, 21457232, 22245843, 22318994, 23578328, 23613382, 24273032, 24862819, 25132448, 25914885, 25963545, 28160419 -
NPR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15146390, 24259409, 25703509 -
NR2F2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10215630, 15750894, 16251273, 18371933, 18798693, 21172461, 24702427, 24702954, 26633542, 28135719 -
NSD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11896389, 12464997, 12807965, 14571271, 15942875, 17825104, 23592277, 23599694, 23913520 -
NTRK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22302274, 27676246, 28940190 -
OCA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8421497, 10094567, 11310796, 11464238, 12469324, 15712365, 15889046, 21085994, 21292473, 23504663, 25093188, 26818737 -
ODAD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8071978, 9298603, 12627427, 14656747, 24577564, 25192045, 25224326 -
OPA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12566046, 14644237, 14961560, 16158427, 20157015, 22857269, 23384603, 23387428, 26385429, 26561570, 27150940, 27656661, 28841713 -
OSGEP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28272532, 28805828 -
OTUD6B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OTX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18728160, 22577225, 24167467 -
OXSM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11562482, 12711318, 17088551, 22581936, 24651605, 27388694 -
PACS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9695949, 23159249, 25522177, 26842493, 28111752, 28975623 -