DisGeNET - a database of gene-disease associations

POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21

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:

rs104893756

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

26612202

2016

dbSNP:

rs104893757

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

26612202

2016

dbSNP:

rs104893758

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

26612202

2016

dbSNP:

rs104893759

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

26612202

2016

dbSNP:

rs104893761

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

26612202

2016

dbSNP:

rs104893762

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

26612202

2016

dbSNP:

rs104893764

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

26612202

2016

dbSNP:

rs104893765

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

26612202

2016

dbSNP:

rs104893766

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

26612202

2016

dbSNP:

rs104893756

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

22010633

2012

dbSNP:

rs104893757

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

22010633

2012

dbSNP:

rs104893758

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

22010633

2012

dbSNP:

rs104893759

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

22010633

2012

dbSNP:

rs104893761

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

22010633

2012

dbSNP:

rs104893762

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

22010633

2012

dbSNP:

rs104893764

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

22010633

2012

dbSNP:

rs104893765

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

22010633

2012

dbSNP:

rs104893766

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

22010633

2012

dbSNP:

rs104893756

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

16968807

2006

dbSNP:

rs104893757

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

16968807

2006

dbSNP:

rs104893758

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

16968807

2006

dbSNP:

rs104893759

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

16968807

2006

dbSNP:

rs104893761

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

16968807

2006

dbSNP:

rs104893762

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

16968807

2006

dbSNP:

rs104893764

Entrez Id:	5449
Gene Symbol:	POU1F1

POU1F1

CUI:	C2751608
Disease:

Pituitary Hormone Deficiency, Combined, 1

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

16968807

2006