WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Wolfram Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 CausalMutation disease CLINVAR Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. 18040659 2008
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 CausalMutation disease CLINVAR Common variants in WFS1 confer risk of type 2 diabetes. 17603484 2007
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease BEFREE We detected an 8.3 Mb terminal deletion and an adjacent 2.6 Mb inverted duplication in the short arm of chromosome 4, which encompasses a gene associated with WFS (WFS1). 17637805 2007
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease UNIPROT Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. 15605410 2005
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease MGD Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion. 15056606 2004
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease BEFREE The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders. 12605098 2003
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease UNIPROT Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. 11295831 2001
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease UNIPROT Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. 11161832 2001
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 CausalMutation disease CLINVAR Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. 11295831 2001
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease UNIPROT Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. 10521293 1999
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease UNIPROT Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. 9817917 1998
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 CausalMutation disease CLINVAR Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family. 9856492 1998
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease GENOMICS_ENGLAND Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. 9817917 1998
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease UNIPROT A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). 9771706 1998
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease GENOMICS_ENGLAND
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease GENOMICS_ENGLAND
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease GENOMICS_ENGLAND