Annotation Detail
Information
- Associated Genes
- WFS1
- Associated Variants
-
WFS1 p.Pro504Leu (p.P504L)
(
ENST00000226760.5,
ENST00000503569.5,
ENST00000506362.2,
ENST00000673991.1,
ENST00000682275.1,
ENST00000684087.1 )
WFS1 p.Arg818Cys (p.R818C) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Pro504Leu (p.P504L) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Arg818Cys (p.R818C) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- Wolfram syndrome
- Source Database
- DisGeNET
- Description
- Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.
- Pubmed
- 11161832
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.62611927926214
- Year of publication
- 2001
Drugs