DisGeNET - a database of gene-disease associations

POU3F4, POU class 3 homeobox 4, 5456

N. diseases: 65; N. variants: 18

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:

rs104894921

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.

24651602

2014

dbSNP:

rs104894922

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.

24651602

2014

dbSNP:

rs104894923

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.

24651602

2014

dbSNP:

rs104894924

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.

24651602

2014

dbSNP:

rs387906502

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.

24651602

2014

dbSNP:

rs104894921

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).

9778298

1998

dbSNP:

rs104894922

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).

9778298

1998

dbSNP:

rs104894923

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).

9778298

1998

dbSNP:

rs104894924

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).

9778298

1998

dbSNP:

rs387906502

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).

9778298

1998

dbSNP:

rs104894921

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.

9298820

1997

dbSNP:

rs104894922

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.

9298820

1997

dbSNP:

rs104894923

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.

9298820

1997

dbSNP:

rs104894924

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

In another DFN3 patient, a somatic mosaicism for an Arg323Gly amino acid substitution was found.

9298820

1997

dbSNP:

rs387906502

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.

9298820

1997

dbSNP:

rs104894921

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

7581392

1995

dbSNP:

rs104894921

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

7839145

1995

dbSNP:

rs104894922

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

7839145

1995

dbSNP:

rs104894922

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

7581392

1995

dbSNP:

rs104894923

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

7839145

1995

dbSNP:

rs104894923

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

7581392

1995

dbSNP:

rs104894924

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

7839145

1995

dbSNP:

rs104894924

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

7581392

1995

dbSNP:

rs387906502

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

7581392

1995

dbSNP:

rs387906502

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

CUI:	C1844678
Disease:

Progressive hearing loss stapes fixation

0.800

GeneticVariation

UNIPROT

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

7839145

1995