DisGeNET - a database of gene-disease associations

POU4F3, POU class 4 homeobox 3, 5459

N. diseases: 23; N. variants: 8

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:

rs121909056

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

28545070

2017

dbSNP:

rs121909056

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.

28790396

2017

dbSNP:

rs121909057

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

28545070

2017

dbSNP:

rs121909057

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.

28790396

2017

dbSNP:

rs121909056

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs121909057

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs121909056

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

24260153

2013

dbSNP:

rs121909057

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

24260153

2013

dbSNP:

rs121909056

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

22938506

2012

dbSNP:

rs121909057

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

22938506

2012

dbSNP:

rs121909056

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

18347256

2008

dbSNP:

rs121909056

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

18228599

2008

dbSNP:

rs121909057

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

18347256

2008

dbSNP:

rs121909057

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

18228599

2008

dbSNP:

rs121909056

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

9506947

1998

dbSNP:

rs121909057

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

GeneticVariation

UNIPROT

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

9506947

1998

dbSNP:

rs121909056

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909057

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.800

CausalMutation

CLINVAR

dbSNP:

rs367737951

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.700

GeneticVariation

UNIPROT

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

28545070

2017

dbSNP:

rs367737951

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.700

GeneticVariation

UNIPROT

A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.

28790396

2017

dbSNP:

rs367737951

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.700

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs367737951

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.700

GeneticVariation

UNIPROT

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

24260153

2013

dbSNP:

rs367737951

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.700

GeneticVariation

UNIPROT

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

22938506

2012

dbSNP:

rs367737951

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.700

GeneticVariation

UNIPROT

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

18228599

2008

dbSNP:

rs367737951

Entrez Id:	5459
Gene Symbol:	POU4F3

POU4F3

CUI:	C1865366
Disease:

Deafness, Autosomal Dominant 15

0.700

GeneticVariation

UNIPROT

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

18347256

2008