Annotation Detail
Information
- Associated Genes
- ACVRL1
- Associated Variants
-
ACVRL1 MUTATION
ACVRL1 MUTATION
ACVRL1 p.Ala482Val (p.A482V) ( ENST00000388922.9, ENST00000550683.5, ENST00000419526.6, ENST00000551576.6, ENST00000547400.6, ENST00000713619.1 )
ACVRL1 p.Ala482Val (p.A482V) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000713619.1 ) - Associated Disease
- OSLER-RENDU-WEBER SYNDROME 2
- Source Database
- DisGeNET
- Description
- Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
- Pubmed
- 15024723
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 2004
Drugs