Annotation Detail
Information
- Associated Genes
- ADD1
- Associated Variants
-
ADD1 p.Gly460Trp (p.G460W)
(
ENST00000264758.11,
ENST00000398129.5,
ENST00000683351.1 )
ADD1 p.Gly460Trp (p.G460W) ( ENST00000264758.11, ENST00000398129.5, ENST00000683351.1 ) - Associated Disease
- endolymphatic hydrops
- Source Database
- DisGeNET
- Description
- Gly460Trp alpha-adducin mutation as a possible mechanism leading to endolymphatic hydrops in Ménière's syndrome.
- Pubmed
- 18667944
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00536282409314951
- Year of publication
- 2008
Drugs