Dysmorphic features

Disease Term Disease ID Gene Symbol Classification References Source
Dysmorphic features C0432072 PAFAH1B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9063735, 9817918, 11502906, 12668601, 24862549, 28440899 -
PCDH19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18234694, 18469813, 19214208, 19752159, 20713952, 21053371, 21463275, 21480887, 21519002, 22050978, 22267240, 22946748, 26765483, 27016041, 28462982, 28669061 -
PCGF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30343942 -
PCNT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19643772, 19839044, 20358609, 21270239, 21567919, 22821869, 24106199 -
PDHA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7887408, 10679936, 15384102, 21914562, 23021068, 25526709, 26008863, 26944031, 27144126, 27896109 -
PEX6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8670792, 11873320, 15098231, 15098234, 17055079, 22871920, 26387595, 26593283 -
PGAP3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17314402, 22265715, 24439110, 26077850, 28390064 -
PHF6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12415272, 13871358, 14756673, 24092917, 27094817, 27633282 -
PHF8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16199551, 17594395, 17661819, 18498374, 19843542, 20622853, 25167861 -
PIEZO2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17345626, 19571066, 23487782, 24649842, 24726473, 25712306, 27607563, 27653382, 27912047 -
PIGN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10574991, 18635593, 21493957, 24253414, 24852103, 25920937, 26364997, 26394714, 26419326, 26879448, 27038415 -
PIGQ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9463366, 9729469, 10373468, 11418246, 22265715, 24463883, 24852103, 25558065, 25851949 -
PKD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10411677, 11156533, 11752048, 12842373, 15677307, 17035604, 18215695, 18945943, 19165178, 19346236, 20558538, 23064367, 26364947 -
PKDCC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19097194, 19465597, 23559552, 23792766, 25171405 -
PLCB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16114046, 18314001, 22560091, 23315542, 27007857, 28328130 -
PLP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2479017, 7541901, 8520726, 8780101, 9418954, 11093273, 11761472, 15627202, 16130097, 16778599, 17568416, 27179222 -
PMM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9140401, 10527672, 10602363, 10854097, 11343337, 15844218, 24498599, 26014514, 26488408, 26805780, 28373276, 28425223 -
PMP22 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1523566, 7728152, 8275092, 9004143, 9543325, 10211478, 10369870, 11523566, 11835375, 12439896, 18592125, 18698610, 21840889, 23224996, 23781966, 24534835, 24646194, 24668782, 24726093, 26076881 -
PNPLA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19038890, 21544567, 24332944, 24334715, 24836204, 25956450 -
POGZ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9862965, 22495311, 22542183, 23375656, 24267886, 24463507, 24896178, 25533962, 25694107, 26739615, 26942287, 27148570, 28480548 -
POMGNT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17878207, 18195152, 22419172, 24120487, 26908613, 27391550 -
POU3F3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1565620, 2044958, 2739723, 8156594, 8543155, 8543156, 9632656, 10433239, 11859196, 12130536, 12925600, 16505001, 17141158, 18261853, 24550763, 26833329, 27479843, 28135719 -
PPM1D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18265945, 22065775, 23242139, 24267886, 24911145, 25356970, 26823519, 26847329, 27479843, 28135719, 28343630 -
PPP2R5D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8703017, 20017541, 23033978, 24896178, 25533962, 25972378, 26168268, 26576547 -
PQBP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 13981686, 14634649, 15355434, 15782410, 16740914, 20950397 -
PRPS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8498830, 8968763, 12847698, 15955956, 17701896, 20021999, 20380929, 24285972, 24528855, 25491489, 25785835, 26089585 -
PRR12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PTCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8840969, 8981943, 9096761, 9231911, 11941477, 12879481, 15545745, 17001668, 24204797, 24529220, 25403219, 26356331, 26604511 -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11238682, 12844284, 15805158, 17286265, 17392703, 17427195, 19265751, 19668082, 21194675, 22252256, 23695273, 24136893, 25022750, 25132236 -
PTPN11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1258892, 1543375, 4025385, 4386970, 8530013, 9222968, 11704759, 12960218, 16523510, 17056636, 17222357, 19206169, 19467855, 21396583, 21500339, 21533187, 26249544, 26297936, 27521173, 27619028 -
PTRH2 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 -
PUF60 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10606266, 10668799, 17579712, 19348700, 19464398, 19854944, 24140112, 24253303, 27804958, 28135719, 28327570, 28990276 -
PURA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1706516, 12972605, 17698009, 18266931, 19182532, 19854944, 21594995, 22711443, 23950017, 25342064, 25439098, 26582469, 27148565, 28164378, 28486374, 29097605, 29150892 -
PYCR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19576563, 19648921, 22052856, 24035636 -
RAB3GAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15696165, 20512159, 23176487, 23420520 -
RAD51 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24808016, 25813273, 26253028 -
RAF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16523510, 17603482, 17603483, 19437094, 20052757, 20876176, 21396583, 21784453, 22389993, 22826437, 23613113, 23877478, 24777450, 26446362, 26903553 -
RAI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15565467, 15788730, 16845274, 17041942, 21857958, 21897445, 25781356, 26544804, 26891008 -
RBFOX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16260614, 25205790, 25753418, 26785492, 27211866, 27485310 -
RBM10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 5410571, 20451169, 21910224, 24259342, 24530524, 28577551 -
RBPJ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RECQL4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16681588, 18647888, 18716613, 19291770, 24635570 -
RELN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10973257, 11748497, 16958033, 17431900, 17955477, 24267886, 25621899, 25648840, 26046367 -
RIT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20876176, 23791108, 24939608, 25049390, 25124994, 25959749, 26714497, 26757980, 27101134, 27109146 -
RMND1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18835491, 23022098, 23022099, 25058219, 25604853, 26238252, 26395190, 27412952 -
RPS6KA3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11180593, 12030896, 15668050, 17100996, 20637903, 22495309, 24267886, 24311527, 24859339, 25044551, 26043507 -
RYR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 4149045, 8661021, 9199552, 16163667, 16380615, 16917943, 18765655, 20583297, 20839240, 23394784, 23553484, 23919265 -
SACS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8472930, 10655055, 11788093, 12873855, 14718708, 15985586, 16007637, 16961075, 17683082, 17846221, 18465152, 19208651, 20876471, 21450511, 22441213, 22751902, 23280630, 23497566, 25401298, 26288984, 27871429 -
SASS6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21273447, 21277013, 24951542, 25548773 -
SATB2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2918541, 10417281, 12915443, 16751105, 16960803, 17377962, 19576302, 19668335, 23849776, 23925499, 24301056, 24363063, 24896178, 25106414, 25885067, 27409069, 27668656, 28139846, 28151491, 28170089, 28211976 -