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: 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: 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: 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