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:

rs4689388

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.820

GeneticVariation

GWASDB

Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals.

21647700

2011

dbSNP:

rs1801214

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.810

GeneticVariation

GWASDB

Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

23300278

2013

dbSNP:

rs1801214

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.810

GeneticVariation

GWASDB

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

22885922

2012

dbSNP:

rs104893882

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.

18518985

2008

dbSNP:

rs104893882

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

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

24462758

2014

dbSNP:

rs104893882

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

12181639

2002

dbSNP:

rs104893882

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs104893882

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

11709538

2001

dbSNP:

rs104893882

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

18688868

2008

dbSNP:

rs104893882

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

17517145

2007

dbSNP:

rs104893882

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

11709537

2001

dbSNP:

rs104893882

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.

21356526

2011

dbSNP:

rs104893883

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

12181639

2002

dbSNP:

rs104893883

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

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

24462758

2014

dbSNP:

rs104893883

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.

21356526

2011

dbSNP:

rs104893883

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs104893883

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

11709537

2001

dbSNP:

rs104893883

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

18688868

2008

dbSNP:

rs104893883

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.

18518985

2008

dbSNP:

rs104893883

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

17517145

2007

dbSNP:

rs104893883

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

11709538

2001

dbSNP:

rs199946797

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs28937893

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C1833021
Disease:

DEAFNESS, AUTOSOMAL DOMINANT 6

0.800

GeneticVariation

UNIPROT

dbSNP:

rs372855769

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

WFS1;LOC107986257

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.800

GeneticVariation

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

dbSNP:

rs372855769

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

WFS1;LOC107986257

CUI:	C4551693
Disease:

Wolfram Syndrome 1

0.800

GeneticVariation

UNIPROT

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

11295831

2001