Annotation Detail
Information
- Associated Genes
- RASA1
- Associated Variants
-
RASA1 MUTATION
RASA1 MUTATION - Associated Disease
- CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
- Source Database
- DisGeNET
- Description
- Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant disorder caused by RASA1 mutations.
- Pubmed
- 25040287
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.483528744337044
Drugs