Annotation Detail
Information
- Associated Genes
- WFS1
- Associated Variants
-
WFS1 p.Gly695Asp (p.G695D)
(
ENST00000226760.5,
ENST00000503569.5,
ENST00000506362.2,
ENST00000673991.1,
ENST00000682275.1,
ENST00000684087.1 )
WFS1 p.Gly695Val (p.G695V) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Pro724Leu (p.P724L) ( ENST00000503569.5, ENST00000226760.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Gly695Asp (p.G695D) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Gly695Val (p.G695V) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Pro724Leu (p.P724L) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- Wolfram syndrome
- Source Database
- DisGeNET
- Description
- Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these mutations were associated with the disease phenotype.
- Pubmed
- 9771706
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.62611927926214
- Year of publication
- 1998
Drugs