Annotation Detail
Information
- Associated Genes
- GNAQ
- Associated Variants
-
GNAQ MUTATION
GNAQ MUTATION - Associated Disease
- Prader-Willi syndrome
- Source Database
- DisGeNET
- Description
- A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample.
- Pubmed
- 25188413
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs