Annotation Detail
Information
- Associated Genes
- ACTA2
- Associated Variants
-
ACTA2 MUTATION
ACTA2 MUTATION - Associated Disease
- Cerebrovascular accident
- Source Database
- DisGeNET
- Description
- ACTA2 mutations have recently been shown to cause a multisystem smooth muscle dysfunction syndrome that may result in pediatric stroke.
- Pubmed
- 24353327
- 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
- DisGENET score for the Gene Disease association
- 0.00108576748832121
Drugs