DisGeNET - a database of gene-disease associations

STAT3, signal transducer and activator of transcription 3, 6774

N. diseases: 138; N. variants: 40

Source: CURATED ×

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:

rs744166

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C0010346
Disease:

Crohn Disease

0.870

GeneticVariation

GWASCAT

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

18587394

2008

dbSNP:

rs744166

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C0010346
Disease:

Crohn Disease

0.870

GeneticVariation

GWASDB

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

18587394

2008

dbSNP:

rs744166

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C0026769
Disease:

Multiple Sclerosis

0.820

GeneticVariation

GWASDB

SNP (rs744166) within the STAT3 gene was associated to MS (p = 2.75 x 10(-10), OR 0.87, confidence interval 0.83-0.91).

20159113

2010

dbSNP:

rs744166

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C0026769
Disease:

Multiple Sclerosis

0.820

GeneticVariation

GWASCAT

SNP (rs744166) within the STAT3 gene was associated to MS (p = 2.75 x 10(-10), OR 0.87, confidence interval 0.83-0.91).

20159113

2010

dbSNP:

rs9891119

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C0010346
Disease:

Crohn Disease

0.810

GeneticVariation

GWASDB

We confirmed associations of Crohn's disease with variants in MHC (rs7765379, P = 2.11 × 10(-59)), TNFSF15 (rs6478106, P = 3.87 × 10(-45)), and STAT3 (rs9891119, P = 2.24 × 10(-14)).

23266558

2013

dbSNP:

rs9891119

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C0010346
Disease:

Crohn Disease

0.810

GeneticVariation

GWASCAT

We confirmed associations of Crohn's disease with variants in MHC (rs7765379, P = 2.11 × 10(-59)), TNFSF15 (rs6478106, P = 3.87 × 10(-45)), and STAT3 (rs9891119, P = 2.24 × 10(-14)).

23266558

2013

dbSNP:

rs12942547

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.800

GeneticVariation

GWASCAT

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

28067908

2017

dbSNP:

rs587777648

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

GeneticVariation

UNIPROT

An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis.

28073828

2017

dbSNP:

rs587777649

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

GeneticVariation

UNIPROT

An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis.

28073828

2017

dbSNP:

rs587777650

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

GeneticVariation

UNIPROT

An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis.

28073828

2017

dbSNP:

rs869312892

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

GeneticVariation

UNIPROT

An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis.

28073828

2017

dbSNP:

rs12942547

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.800

GeneticVariation

GWASCAT

Identification of Loci at 1q21 and 16q23 That Affect Susceptibility to Inflammatory Bowel Disease in Koreans.

27569725

2016

dbSNP:

rs193922721

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4721531
Disease:

HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT

0.800

GeneticVariation

UNIPROT

Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort.

26293184

2016

dbSNP:

rs397514766

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4721531
Disease:

HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT

0.800

GeneticVariation

UNIPROT

Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort.

26293184

2016

dbSNP:

rs869312892

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

CausalMutation

CLINVAR

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

25359994

2015

dbSNP:

rs587777648

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

GeneticVariation

UNIPROT

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

25038750

2014

dbSNP:

rs587777649

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

GeneticVariation

UNIPROT

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

25038750

2014

dbSNP:

rs587777650

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

GeneticVariation

UNIPROT

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

25038750

2014

dbSNP:

rs869312892

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

GeneticVariation

UNIPROT

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

25038750

2014

dbSNP:

rs193922721

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4721531
Disease:

HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT

0.800

GeneticVariation

CLINVAR

Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.

23584561

2013

dbSNP:

rs12942547

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.800

GeneticVariation

GWASCAT

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

23128233

2012

dbSNP:

rs12942547

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.800

GeneticVariation

GWASDB

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

23128233

2012

dbSNP:

rs193922721

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4721531
Disease:

HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT

0.800

GeneticVariation

UNIPROT

Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease.

23342295

2012

dbSNP:

rs193922721

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4721531
Disease:

HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT

0.800

GeneticVariation

CLINVAR

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

22751495

2012

dbSNP:

rs397514766

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4721531
Disease:

HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT

0.800

GeneticVariation

UNIPROT

Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease.

23342295

2012