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 Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. 30171196 2018
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease BEFREE Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila. 29357349 2018
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease BEFREE Wolfram syndrome 1 (WS) is a rare neurodegenerative disease that is caused by mutations in the Wolfram syndrome 1 (WFS1) gene, which encodes the endoplasmic reticulum (ER) glycoprotein wolframin. 28901522 2017
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease BEFREE Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice. 29257731 2017
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease GENOMICS_ENGLAND Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. 28468959 2017
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease GENOMICS_ENGLAND A three-step programmed method for the identification of causative gene mutations of maturity onset diabetes of the young (MODY). 27185633 2016
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 CausalMutation disease CLINVAR Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations. 26875006 2016
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 CausalMutation disease CLINVAR Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1. 26435059 2015
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease CTD_human Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. 24705017 2014
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease CLINVAR Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features. 25211237 2014
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 Biomarker disease MGD Energy metabolism and thyroid function of mice with deleted wolframin (Wfs1) gene. 24710642 2014
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 CausalMutation disease CLINVAR Phenotypic characteristics of early Wolfram syndrome. 23981289 2013
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 CausalMutation disease CLINVAR Wolfram syndrome: new mutations, different phenotype. 22238590 2012
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease UNIPROT Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease. 22226368 2012
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		0.980 GeneticVariation disease BEFREE The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. 22790102 2012
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
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 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 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