Annotation Detail
Information
- Associated Genes
- ACVRL1
- Associated Variants
-
ACVRL1 MUTATION
ACVRL1 MUTATION - Associated Disease
- OSLER-RENDU-WEBER SYNDROME 2
- Source Database
- DisGeNET
- Description
- Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.
- Pubmed
- 11170071
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 2001
Drugs