DisGeNET - a database of gene-disease associations

WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 16; N. variants: 57

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1801212

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1801212

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.700

GeneticVariation

GWASCAT

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

29632382

2018

dbSNP:

rs62283056

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C0235280
Disease:

Ototoxicity

0.700

GeneticVariation

GWASCAT

Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity.

28039263

2017

dbSNP:

rs387906930

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

CausalMutation

CLINVAR

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.

26875006

2016

dbSNP:

rs797045075

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

GeneticVariation

CLINVAR

Molecular diagnostic experience of whole-exome sequencing in adult patients.

26633545

2016

dbSNP:

rs797045076

Entrez Id:	7466;107986257
Gene Symbol:	WFS1;LOC107986257

WFS1;LOC107986257

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

CausalMutation

CLINVAR

Molecular diagnostic experience of whole-exome sequencing in adult patients.

26633545

2016

dbSNP:

rs387906930

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

CausalMutation

CLINVAR

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

26435059

2015

dbSNP:

rs121912618

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.700

GeneticVariation

UNIPROT

WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.

24462758

2014

dbSNP:

rs121912618

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.700

GeneticVariation

UNIPROT

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

25388789

2014

dbSNP:

rs141328044

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.700

GeneticVariation

UNIPROT

WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.

24462758

2014

dbSNP:

rs141328044

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.700

GeneticVariation

UNIPROT

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

25388789

2014

dbSNP:

rs142668478

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.700

GeneticVariation

UNIPROT

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

25388789

2014

dbSNP:

rs142668478

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.700

GeneticVariation

UNIPROT

WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.

24462758

2014

dbSNP:

rs201064551

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.700

GeneticVariation

UNIPROT

WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.

24462758

2014

dbSNP:

rs201064551

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.700

GeneticVariation

UNIPROT

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

25388789

2014

dbSNP:

rs752461187

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

GeneticVariation

CLINVAR

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

25211237

2014

dbSNP:

rs758281375

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.700

GeneticVariation

UNIPROT

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

25388789

2014

dbSNP:

rs758281375

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.700

GeneticVariation

UNIPROT

WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.

24462758

2014

dbSNP:

rs1560408865

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

CausalMutation

CLINVAR

Phenotypic characteristics of early Wolfram syndrome.

23981289

2013

dbSNP:

rs1402999203

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

GeneticVariation

UNIPROT

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

22226368

2012

dbSNP:

rs148953711

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

GeneticVariation

UNIPROT

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

22226368

2012

dbSNP:

rs35932623

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

GeneticVariation

UNIPROT

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

22226368

2012

dbSNP:

rs369671890

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

GeneticVariation

UNIPROT

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

22226368

2012

dbSNP:

rs372249044

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

GeneticVariation

UNIPROT

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

22226368

2012

dbSNP:

rs387906930

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.700

CausalMutation

CLINVAR

Wolfram syndrome: new mutations, different phenotype.

22238590

2012