WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Wolfram-like syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 GeneticVariation disease BEFREE We successfully identified 13 WFS1 variants in 19 probands: eight of the 13 variants were previously reported mutations, including three mutations (p.A684V, p.K836N, and p.E864K) known to cause Wolfram-like syndrome, and five were novel mutations. 29529044 2018
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 Biomarker disease CLINGEN We successfully identified 13 WFS1 variants in 19 probands: eight of the 13 variants were previously reported mutations, including three mutations (p.A684V, p.K836N, and p.E864K) known to cause Wolfram-like syndrome, and five were novel mutations. 29529044 2018
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 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: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 GeneticVariation disease BEFREE A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. 27217304 2016
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 Biomarker disease CLINGEN Expression pattern of wolframin, the WFS1 (Wolfram syndrome-1 gene) product, in common marmoset (Callithrix jacchus) cochlea. 27341211 2016
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 Biomarker disease CLINGEN WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. 27395765 2016
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 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: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 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: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 Biomarker disease CLINGEN Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. 20069065 2010
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 Biomarker disease CLINGEN Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 18544103 2008
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 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: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 Biomarker disease CLINGEN Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. 12073007 2002
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		0.320 Biomarker disease CLINGEN Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. 11709537 2001