Annotation Detail
Information
- Associated Genes
- WFS1
- Associated Variants
-
WFS1 p.Ala684Val (p.A684V)
(
ENST00000226760.5,
ENST00000503569.5,
ENST00000506362.2,
ENST00000673991.1,
ENST00000682275.1,
ENST00000684087.1 )
WFS1 p.Ala684Val (p.A684V) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- Optic Atrophy, Autosomal Dominant
- Source Database
- DisGeNET
- Description
- Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
- Pubmed
- 21538838
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2011
Drugs