DisGeNET - a database of gene-disease associations

STAT1, signal transducer and activator of transcription 1, 6772

N. diseases: 531; N. variants: 41

Disease: IMMUNODEFICIENCY 31A ×

Variant: rs387906758 ×

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:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

GeneticVariation

CLINVAR

Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.

28258222

2017

dbSNP:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

GeneticVariation

CLINVAR

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

26604104

2016

dbSNP:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

GeneticVariation

CLINVAR

Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

26242301

2016

dbSNP:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

CausalMutation

CLINVAR

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

26604104

2016

dbSNP:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

GeneticVariation

CLINVAR

Orf Infection in a Patient with Stat1 Gain-of-Function.

25367169

2015

dbSNP:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

CausalMutation

CLINVAR

Orf Infection in a Patient with Stat1 Gain-of-Function.

25367169

2015

dbSNP:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

GeneticVariation

CLINVAR

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

23541320

2013

dbSNP:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

GeneticVariation

CLINVAR

Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.

22847544

2012

dbSNP:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

CausalMutation

CLINVAR

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

21714643

2011

dbSNP:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

GeneticVariation

CLINVAR

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

21714643

2011

dbSNP:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

GeneticVariation

CLINVAR

STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.

22195034

2011

dbSNP:

rs387906758

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

GeneticVariation

CLINVAR

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

21727188

2011