Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION | C1832529 | ACVRL1 | Causal Pathogenic evidence from ClinVar | 8640225, 9245985, 11484689, 12015308, 12588795, 14684682, 15065824, 15687131, 15702480, 17384219, 17911384, 18159113, 19357124, 20056902, 20364125, 20414677, 21378382, 21651515, 23298310, 23919827, 24896812, 25318803, 26176610, 26387786 | ClinVar |
| ENG | Causal Pathogenic evidence from ClinVar | 14684682, 15115879, 15687131, 18156574, 23919827 | ClinVar |