Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome. 29868029

2018
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses. 28315006

2017
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. 27799162

2016
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation UNIPROT Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort. 26293184

2016
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 Biomarker GENOMICS_ENGLAND Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 25359994

2015
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters. 26384563

2015
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 25359994

2015
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 Biomarker GENOMICS_ENGLAND Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients. 24452316

2014
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation CLINVAR Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. 23584561

2013
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway. 22581330

2012
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation BEFREE Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3. 22268731

2012
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation CLINVAR Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. 22751495

2012
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation CLINVAR Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. 22030463

2012
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation UNIPROT Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease. 23342295

2012
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function. 21792878

2011
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES). 21324546

2011
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 Biomarker GENOMICS_ENGLAND Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 20159255

2010
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. 20816194

2010
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation BEFREE Mutations in STAT3 cause autosomal dominant HIES (Job's syndrome), which is unique in its diversity of connective tissue, skeletal, and vascular abnormalities. 21178271

2010
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation BEFREE Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. 20093388

2010
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation CLINVAR Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. 19577286

2009
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 CausalMutation CLINVAR Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. 18706697

2008
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.630 GeneticVariation CLINVAR Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. 18602572

2008