WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Wolfram-Like Syndrome, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CLINGEN WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. 29529044 2018
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CLINGEN Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family. 28802351 2017
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 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: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CLINGEN Expression pattern of wolframin, the WFS1 (Wolfram syndrome-1 gene) product, in common marmoset (Callithrix jacchus) cochlea. 27341211 2016
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 GeneticVariation disease BEFREE The mutation p.(Glu809Lys) in the WFS1 gene is associated with WFSL. 27217304 2016
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CLINGEN WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. 27395765 2016
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CLINGEN Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies. 25250959 2014
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CLINGEN 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: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 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: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 GeneticVariation disease UNIPROT Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. 20069065 2010
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CLINGEN Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. 20069065 2010
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 GermlineCausalMutation disease ORPHANET Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. 20069065 2010
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CLINGEN Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 18544103 2008
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CLINGEN Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 16648378 2006
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 GeneticVariation disease UNIPROT Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 16648378 2006
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CLINGEN Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. 12073007 2002
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CLINGEN Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. 11709537 2001
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 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: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease CTD_human
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 CausalMutation disease CLINVAR
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		0.710 Biomarker disease GENOMICS_ENGLAND