Telangiectasia, hereditary hemorrhagic

Disease Term Disease ID Gene Symbol Classification References Source
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 C3809710 GDF2 Causal Pathogenic evidence from ClinVar 23972370, 25674101 ClinVar
OSLER-RENDU-WEBER SYNDROME 2 C1838163 ACVRL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8640225, 9245985, 10187774, 10694922, 10767348, 11170071, 11484689, 12015308, 12114496, 12588795, 12700602, 12843319, 14684682, 15024723, 15065824, 15375013, 15517393, 15687131, 15702480, 15712270, 15712271, 15879500, 15880681, 16123970, 16282348, 16429404, 16470589, 16470787, 16525724, 16540754, 16542389, 16690726, 16705692, 16706966, 16752392, 16861286, 17384219, 17786384, 17911384, 18159113, 18285823, 18498373, 18673552, 19508727, 19555857, 20364125, 20414677, 20501893, 21158752, 21378382, 22028876, 22377182, 22553411, 22632830, 22718755, 22799562, 22991266, 23124896, 23298310, 23722869, 23805858, 23919827, 24603890, 24896812, 25970827, 26176610, 26245826, 26387786, 26699722, 27316748, 29171923, 30251589 -