DisGeNET - a database of gene-disease associations

KCNQ4, potassium voltage-gated channel subfamily Q member 4, 9132

N. diseases: 31; N. variants: 29

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:

rs28939710

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

CausalMutation

CLINVAR

A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

26036578

2015

dbSNP:

rs80358276

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

CausalMutation

CLINVAR

A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

26036578

2015

dbSNP:

rs80358278

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

CausalMutation

CLINVAR

A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

26036578

2015

dbSNP:

rs28937588

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

CausalMutation

CLINVAR

Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.

25116015

2014

dbSNP:

rs137853969

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

21242547

2011

dbSNP:

rs28937588

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

21242547

2011

dbSNP:

rs28939710

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

21242547

2011

dbSNP:

rs80358276

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

21242547

2011

dbSNP:

rs80358277

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

21242547

2011

dbSNP:

rs80358278

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

21242547

2011

dbSNP:

rs137853969

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

10925378

2000

dbSNP:

rs28937588

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

10925378

2000

dbSNP:

rs28939710

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

10925378

2000

dbSNP:

rs80358276

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

10925378

2000

dbSNP:

rs80358277

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

10925378

2000

dbSNP:

rs80358278

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

10925378

2000

dbSNP:

rs137853969

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

10571947

1999

dbSNP:

rs137853969

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

10025409

1999

dbSNP:

rs137853969

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

10369879

1999

dbSNP:

rs28937588

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

10369879

1999

dbSNP:

rs28937588

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

CausalMutation

CLINVAR

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

10025409

1999

dbSNP:

rs28937588

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

10571947

1999

dbSNP:

rs28937588

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

10025409

1999

dbSNP:

rs28939710

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

10025409

1999

dbSNP:

rs28939710

Entrez Id:	9132
Gene Symbol:	KCNQ4

KCNQ4

CUI:	C2677637
Disease:

Deafness, Autosomal Dominant 2A

0.800

GeneticVariation

UNIPROT

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

10369879

1999