Annotation Detail
Information
- Associated Genes
- GNAQ
- Associated Variants
-
GNAQ MUTATION
GNAQ MUTATION - Associated Disease
- Sturge-Weber syndrome
- Source Database
- DisGeNET
- Description
- A somatic GNAQ mutation was recently identified in patients with sporadic PWSs and Sturge-Weber syndrome.
- Pubmed
- 25188413
- 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,CLINVAR,CTD_human,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.480814325616241
Drugs