DisGeNET - a database of gene-disease associations

Source: ALL

Disease: STAT3 Gain of Function ×

Variant: rs113994135 ×

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:

rs113994135

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

CausalMutation

CLINVAR

Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.

24452316

2014

dbSNP:

rs113994135

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

CausalMutation

CLINVAR

STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.

22581330

2012

dbSNP:

rs113994135

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

CausalMutation

CLINVAR

Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES).

21324546

2011

dbSNP:

rs113994135

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

CausalMutation

CLINVAR

STAT3 mutations in the hyper-IgE syndrome.

17881745

2007

dbSNP:

rs113994135

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

CausalMutation

CLINVAR

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.

17676033

2007

dbSNP:

rs113994135

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

CausalMutation

CLINVAR

STAT3 mutation in the original patient with Job's syndrome.

17942886

2007