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 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
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 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 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 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 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 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 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 Biomarker disease MGD Behavioral and gene expression analyses of Wfs1 knockout mice as a possible animal model of mood disorder. 18343518 2008
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease BEFREE DNA analysis to examine single-nucleotide polymorphisms in 2 candidate modifier genes (ATP2B2 and Wolfram syndrome 1 [WFS1]) is summarized in this report. 18667942 2008
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 Biomarker disease MGD Wfs1 gene deletion causes growth retardation in mice and interferes with the growth hormone pathway. 19293327 2009
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease BEFREE We have previously shown that mutations in the Wolfram syndrome 1 (WFS1) gene cause Wolfram syndrome and that WFS1 has a protective function against ER stress. 20160352 2010
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 CausalMutation disease CLINVAR Congenital cataracts in two siblings with Wolfram syndrome. 21067485 2010
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease MGD Sex differences in the development of diabetes in mice with deleted wolframin (Wfs1) gene. 21031341 2011
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 CausalMutation disease CLINVAR Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. 21538838 2011
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease 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