Annotation Detail
Information
- Associated Genes
- WFS1
- Associated Variants
-
WFS1 p.Thr699Met (p.T699M)
(
ENST00000226760.5,
ENST00000503569.5,
ENST00000506362.2,
ENST00000673991.1,
ENST00000682275.1,
ENST00000684087.1 )
WFS1 p.Ala716Thr (p.A716T) ( ENST00000503569.5, ENST00000506362.2, ENST00000226760.5, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Val779Met (p.V779M) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Gly831Asp (p.G831D) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Thr699Met (p.T699M) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Ala716Thr (p.A716T) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Val779Met (p.V779M) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Gly831Asp (p.G831D) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- DEAFNESS, AUTOSOMAL DOMINANT 6
- Source Database
- DisGeNET
- Description
- The DFNA6/14 critical region includes WFS1, the gene responsible for Wolfram syndrome, an autosomal recessive disorder characterized by diabetes mellitus and optic atrophy, and often, deafness.
- Pubmed
- 11709537
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2001
Drugs