DisGeNET - a database of gene-disease associations

STAT3, signal transducer and activator of transcription 3, 6774

N. diseases: 1193; N. variants: 57

Disease: Job Syndrome ×

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:

rs113994139

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

29077208

2018

dbSNP:

rs1555563871

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

29077208

2018

dbSNP:

rs113994139

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

27980540

2016

dbSNP:

rs886039434

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

GeneticVariation

CLINVAR

TH17 Cells in STAT3 Related Hyper-IgE Syndrome.

27226025

2016

dbSNP:

rs1555563871

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

Lipase-catalyzed acylation of microbial mannosylerythritol lipids (biosurfactants) and their characterization.

23584591

2013

dbSNP:

rs1567713850

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.

22751495

2012

dbSNP:

rs113994139

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function.

21792878

2011

dbSNP:

rs113994139

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

20159255

2010

dbSNP:

rs113994139

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients.

20032313

2010

dbSNP:

rs886039434

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

GeneticVariation

CLINVAR

Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.

20816194

2010

dbSNP:

rs113994139

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

18706697

2008

dbSNP:

rs113994139

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.

18602572

2008

dbSNP:

rs113994139

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3.

18978467

2008

dbSNP:

rs1567713850

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.

18591412

2008

dbSNP:

rs113994139

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

CausalMutation

CLINVAR

STAT3 mutations in the hyper-IgE syndrome.

17881745

2007

dbSNP:

rs193922716

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs193922717

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs193922719

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs193922720

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs193922721

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs193922722

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs113994135

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C3887645
Disease:

Job Syndrome

0.010

GeneticVariation

BEFREE

These data suggest, that dominant negative mutations of the DNA-binding and SH2 domains of STAT3 cause AD and sporadic cases of HIES in different ethnic groups with R382W as the predominant mutation found in 5 of the 9 families.

18706697

2008