Annotation Detail
Information
- Associated Genes
- ACVRL1
- Associated Variants
-
ACVRL1 MUTATION
ACVRL1 MUTATION - Associated Disease
- hereditary hemorrhagic telangiectasia
- Source Database
- DisGeNET
- Description
- Since the landmark discovery that bone morphogenetic protein receptor type II (BMPR2) mutations cause the majority of cases of familial PAH, investigators have discovered mutations in genes that cause PAH in families without BMPR2 mutations, including the type I receptor ACVRL1 and the type III receptor ENG (both associated with hereditary hemorrhagic telangiectasia), caveolin-1 (CAV1), and a gene (KCNK3) encoding a two-pore potassium channel.
- Pubmed
- 25159282
- Section of the abstract supporting the evidence
- RECENT FINDINGS
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN,ORPHANET
- DisGENET score for the Gene Disease association
- 0.303376404107996
Drugs