Annotation Detail
Information
- Associated Genes
- GNAQ
- Associated Variants
-
GNAQ MUTATION
GNAQ MUTATION - Associated Disease
- Sturge-Weber syndrome
- Source Database
- DisGeNET
- Description
- The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.
- Pubmed
- 25374402
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.480814325616241
Drugs