DisGeNET - a database of gene-disease associations

DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8, C1832827

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852999

TMPRSS3

0.800

GeneticVariation

UNIPROT

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.

16021470

2005

dbSNP:

rs137853000

TMPRSS3

0.800

GeneticVariation

UNIPROT

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.

16021470

2005

dbSNP:

rs28939084

TMPRSS3

0.800

GeneticVariation

UNIPROT

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.

16021470

2005

dbSNP:

rs387906915

TMPRSS3

0.800

GeneticVariation

UNIPROT

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.

16021470

2005

dbSNP:

rs137852999

TMPRSS3

0.800

GeneticVariation

UNIPROT

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

15447792

2004

dbSNP:

rs137853000

TMPRSS3

0.800

GeneticVariation

UNIPROT

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

15447792

2004

dbSNP:

rs28939084

TMPRSS3

0.800

GeneticVariation

UNIPROT

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

15447792

2004

dbSNP:

rs387906915

TMPRSS3

0.800

GeneticVariation

UNIPROT

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

15447792

2004

dbSNP:

rs137852999

TMPRSS3

0.800

GeneticVariation

UNIPROT

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

12393794

2002

dbSNP:

rs137852999

TMPRSS3

0.800

GeneticVariation

UNIPROT

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

11907649

2002

dbSNP:

rs137853000

TMPRSS3

0.800

GeneticVariation

UNIPROT

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

12393794

2002

dbSNP:

rs137853000

TMPRSS3

0.800

GeneticVariation

UNIPROT

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

11907649

2002

dbSNP:

rs28939084

TMPRSS3

0.800

GeneticVariation

UNIPROT

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

11907649

2002

dbSNP:

rs28939084

TMPRSS3

0.800

GeneticVariation

UNIPROT

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

12393794

2002

dbSNP:

rs387906915

TMPRSS3

0.800

GeneticVariation

UNIPROT

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

11907649

2002

dbSNP:

rs387906915

TMPRSS3

0.800

GeneticVariation

UNIPROT

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

12393794

2002

dbSNP:

rs137852999

TMPRSS3

0.800

GeneticVariation

UNIPROT

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.

11424922

2001

dbSNP:

rs137852999

TMPRSS3

0.800

GeneticVariation

UNIPROT

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

11462234

2001

dbSNP:

rs137853000

TMPRSS3

0.800

GeneticVariation

UNIPROT

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.

11424922

2001

dbSNP:

rs137853000

TMPRSS3

0.800

GeneticVariation

UNIPROT

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

11462234

2001

dbSNP:

rs28939084

TMPRSS3

0.800

GeneticVariation

UNIPROT

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

11462234

2001

dbSNP:

rs28939084

TMPRSS3

0.800

GeneticVariation

UNIPROT

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.

11424922

2001

dbSNP:

rs387906915

TMPRSS3

0.800

GeneticVariation

UNIPROT

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

11462234

2001

dbSNP:

rs387906915

TMPRSS3

0.800

GeneticVariation

UNIPROT

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.

11424922

2001

dbSNP:

rs137852999

TMPRSS3

0.800

CausalMutation

CLINVAR