Annotation Detail
Information
- Associated Genes
- ACVRL1
- Associated Variants
-
ACVRL1 p.Arg374Trp (p.R374W)
(
ENST00000388922.9,
ENST00000550683.5,
ENST00000419526.6,
ENST00000713619.1,
ENST00000552678.2,
ENST00000547400.6,
ENST00000551576.6 )
ACVRL1 p.Arg374Trp (p.R374W) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 ) - Associated Disease
- OSLER-RENDU-WEBER SYNDROME 2
- Source Database
- DisGeNET
- Description
- Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.
- Pubmed
- 15712270
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 2005
Drugs