Annotation Detail
Information
- Associated Genes
- ACTA2
- Associated Variants
-
ACTA2 MUTATION
ACTA2 MUTATION - Associated Disease
- Mydriasis, Congenital
- Source Database
- DisGeNET
- Description
- This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis.
- Pubmed
- 24998021
- Section of the abstract supporting the evidence
- ALL_TEXT
- 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
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs