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: rs387906759 ×

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:

rs387906759

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:

rs387906759

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

CausalMutation

CLINVAR

Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

26255980

2015

dbSNP:

rs387906759

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

CausalMutation

CLINVAR

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

26494717

2015

dbSNP:

rs387906759

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

CausalMutation

CLINVAR

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

24343863

2014

dbSNP:

rs387906759

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

CausalMutation

CLINVAR

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

23541320

2013

dbSNP:

rs387906759

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.700

CausalMutation

CLINVAR

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

23709754

2013

dbSNP:

rs387906759

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