DisGeNET - a database of gene-disease associations

Source: ALL

Disease: STAT3 Gain of Function ×

Variant: rs193922721 ×

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:

rs193922721

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

GeneticVariation

CLINVAR

Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.

23584561

2013

dbSNP:

rs193922721

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

GeneticVariation

CLINVAR

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

22751495

2012

dbSNP:

rs193922721

STAT3

CUI:	C4288261
Disease:	STAT3 Gain of Function

STAT3 Gain of Function

0.700

GeneticVariation

CLINVAR

Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.

19577286

2009