Annotation Detail
Information
- Associated Genes
- ACTA2
- Associated Variants
-
ACTA2 MUTATION
ACTA2 MUTATION - Associated Disease
- Moyamoya disease
- Source Database
- DisGeNET
- Description
- Recently, mutations in human RNF213 and ACTA2 genes were identified to be responsible for MMD.
- Pubmed
- 25956231
- 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
- 2
- Original source reporting the Gene Disease association
- BeFree,ORPHANET
- DisGENET score for the Gene Disease association
- 0.121628651232482
Drugs