Telangiectasia

Disease Term Disease ID Gene Symbol Classification References Source
Telangiectasia, Hereditary Hemorrhagic, Type 1 C4551861 ACVRL1 Causal Pathogenic evidence from ClinVar 15024723, 15065824, 15517393, 16429404, 16470787, 17219009, 17384219, 17786384, 18673552, 20135064, 23722869, 23919827, 24196379 ClinVar
ENG Causal Pathogenic evidence from ClinVar 7894484, 9157574, 9245986, 9554745, 10545596, 10625079, 10982033, 14684682, 15024723, 15115879, 15712270, 16429404, 16525724, 16752392, 20135064, 20414677, 26699722, 28989145, 30251589 ClinVar
GDF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26801773 -
Telangiectasia macularis eruptiva perstans 90389, C0263402 KIT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -