Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922721
rs193922721
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort. 26293184 2016
dbSNP: rs397514766
rs397514766
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort. 26293184 2016
dbSNP: rs193922721
rs193922721
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		C 0.800 GeneticVariation CLINVAR Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. 23584561 2013
dbSNP: rs193922721
rs193922721
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		C 0.800 GeneticVariation CLINVAR Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. 22751495 2012
dbSNP: rs193922721
rs193922721
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease. 23342295 2012
dbSNP: rs397514766
rs397514766
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease. 23342295 2012
dbSNP: rs193922721
rs193922721
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		C 0.800 GeneticVariation CLINVAR Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. 19577286 2009
dbSNP: rs193922721
rs193922721
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT STAT3 mutations in the hyper-IgE syndrome. 17881745 2007
dbSNP: rs193922721
rs193922721
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 17676033 2007
dbSNP: rs397514766
rs397514766
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 17676033 2007
dbSNP: rs397514766
rs397514766
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT STAT3 mutations in the hyper-IgE syndrome. 17881745 2007
dbSNP: rs397514766
rs397514766
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs886039434
rs886039434
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome. 29868029 2018
dbSNP: rs886039434
rs886039434
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		G 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: rs113994139
rs113994139
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. 27799162 2016
dbSNP: rs113994139
rs113994139
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters. 26384563 2015
dbSNP: rs869312890
rs869312890
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 25359994 2015
dbSNP: rs869312892
rs869312892
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 25359994 2015
dbSNP: rs113994135
rs113994135
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients. 24452316 2014
dbSNP: rs869312892
rs869312892
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750 2014
dbSNP: rs113994135
rs113994135
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway. 22581330 2012
dbSNP: rs193922716
rs193922716
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.700 GeneticVariation CLINVAR Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. 22030463 2012
dbSNP: rs113994135
rs113994135
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 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: rs113994139
rs113994139
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 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
rs886039434
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function. 21792878 2011