DisGeNET - a database of gene-disease associations

COCH, cochlin, 1690

N. diseases: 45; N. variants: 14

Disease: Deafness, Autosomal Dominant 9 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908930

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.810

GeneticVariation

UNIPROT

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

9931344

1999

dbSNP:

rs121908928

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.810

GeneticVariation

UNIPROT

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.

9806553

1998

dbSNP:

rs121908930

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.810

GeneticVariation

UNIPROT

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.

9806553

1998

dbSNP:

rs121908928

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.810

CausalMutation

CLINVAR

dbSNP:

rs121908930

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.810

CausalMutation

CLINVAR

dbSNP:

rs121908927

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs121908929

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs121908932

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs121908934

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs121908927

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.

22931125

2013

dbSNP:

rs121908927

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.

23993205

2013

dbSNP:

rs121908929

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.

23993205

2013

dbSNP:

rs121908929

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.

22931125

2013

dbSNP:

rs121908932

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.

22931125

2013

dbSNP:

rs121908932

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.

23993205

2013

dbSNP:

rs121908934

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.

23993205

2013

dbSNP:

rs121908934

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.

22931125

2013

dbSNP:

rs121908927

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

22610276

2012

dbSNP:

rs121908929

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

22610276

2012

dbSNP:

rs121908932

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

22610276

2012

dbSNP:

rs121908934

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

22610276

2012

dbSNP:

rs121908927

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.

18312449

2008

dbSNP:

rs121908929

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.

18312449

2008

dbSNP:

rs121908932

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.

18312449

2008

dbSNP:

rs121908934

Entrez Id:	1690;100506071
Gene Symbol:	COCH;LOC100506071

COCH;LOC100506071

CUI:	C1832425
Disease:

Deafness, Autosomal Dominant 9

0.800

GeneticVariation

UNIPROT

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.

18312449

2008