Hereditary hemorrhagic telangiectasia

Disease Term Disease ID Gene Symbol Classification References Source
Hereditary hemorrhagic telangiectasia 774, C0039445 ACVRL1 Causal Pathogenic evidence from ClinVar 20135064 ClinVar
ENG Causal Pathogenic evidence from ClinVar 7894484, 8162075, 9245986, 9366572, 9554745, 10348742, 10545596, 10625079, 10749981, 11440987, 11793473, 12015308, 12673790, 12920067, 15024723, 15115879, 15266205, 15375013, 15517393, 15521985, 15702480, 15712270, 15712271, 15849752, 15879500, 15880681, 15907823, 16542389, 16690726, 16705692, 16752392, 17384219, 17786384, 18498373, 18607909, 19270816, 19508727, 19767588, 20135064, 20224041, 20364125, 20414677, 20501893, 20656886, 20824275, 21158752, 21967607, 22022569, 22192717, 22385575, 22991266, 23722869, 23919827, 24001356, 24196379, 25080347, 25312062, 25970827, 26699722, 30763665 ClinVar
GDF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23972370, 26801773 -
SMAD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15754356 -