DisGeNET - a database of gene-disease associations

Source: ALL

Disease: STAT3 Gain of Function ×

Variant: rs886039434 ×

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:

rs886039434

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

CausalMutation

CLINVAR

STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome.

29868029

2018

dbSNP:

rs886039434

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

CausalMutation

CLINVAR

Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses.

28315006

2017

dbSNP:

rs886039434

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

CausalMutation

CLINVAR

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

21792878

2011

dbSNP:

rs886039434

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

CausalMutation

CLINVAR

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

20816194

2010