WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Wolfram-Like Syndrome, Autosomal Dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315205
rs74315205
Entrez Id: 7466;107986257
Gene Symbol: WFS1;LOC107986257
WFS1;LOC107986257
CUI: C3280358
Disease:
Wolfram-Like Syndrome, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. 21538838 2011
dbSNP: rs74315205
rs74315205
Entrez Id: 7466;107986257
Gene Symbol: WFS1;LOC107986257
WFS1;LOC107986257
CUI: C3280358
Disease:
Wolfram-Like Syndrome, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. 20069065 2010
dbSNP: rs74315205
rs74315205
Entrez Id: 7466;107986257
Gene Symbol: WFS1;LOC107986257
WFS1;LOC107986257
CUI: C3280358
Disease:
Wolfram-Like Syndrome, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 16648378 2006
dbSNP: rs74315205
rs74315205
Entrez Id: 7466;107986257
Gene Symbol: WFS1;LOC107986257
WFS1;LOC107986257
CUI: C3280358
Disease:
Wolfram-Like Syndrome, Autosomal Dominant 		A 0.800 CausalMutation CLINVAR