DisGeNET - a database of gene-disease associations

STAT3, signal transducer and activator of transcription 3, 6774

N. diseases: 138; N. variants: 40

Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 ×

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:

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:

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:

rs587777648

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777649

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777650

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs193922717

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.700

CausalMutation

CLINVAR

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

25359994

2015

dbSNP:

rs869312887

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.700

CausalMutation

CLINVAR

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

25359994

2015

dbSNP:

rs869312888

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.700

CausalMutation

CLINVAR

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

25359994

2015

dbSNP:

rs869312889

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.700

CausalMutation

CLINVAR

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

25359994

2015

dbSNP:

rs869312890

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.700

CausalMutation

CLINVAR

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

25359994

2015

dbSNP:

rs869312891

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.700

CausalMutation

CLINVAR

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

25359994

2015

dbSNP:

rs869312893

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.700

CausalMutation

CLINVAR

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

25359994

2015

dbSNP:

rs869312894

Entrez Id:	6774
Gene Symbol:	STAT3

STAT3

CUI:	C4014795
Disease:

AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1

0.700

CausalMutation

CLINVAR

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

25359994

2015