Annotation Detail
Information
- Associated Genes
- RASA1
- Associated Variants
-
RASA1 MUTATION
RASA1 MUTATION - Associated Disease
- CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
- Source Database
- DisGeNET
- Description
- These RASA1-associated cutaneous capillary malformations (CMs) can accompany internal or cutaneous arteriovenous malformation (AVM) or arteriovenous fistula to constitute CM-AVM syndrome.
- Pubmed
- 23829194
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.483528744337044
Drugs