Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994139
rs113994139
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 CausalMutation CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208

2018
dbSNP: rs113994139
rs113994139
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 CausalMutation CLINVAR Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand. 27980540

2016
dbSNP: rs113994139
rs113994139
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		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: rs113994139
rs113994139
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 CausalMutation CLINVAR Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients. 20032313

2010
dbSNP: rs113994139
rs113994139
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 20159255

2010
dbSNP: rs113994139
rs113994139
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 CausalMutation 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
dbSNP: rs113994139
rs113994139
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 CausalMutation CLINVAR Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. 18978467

2008
dbSNP: rs113994139
rs113994139
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 CausalMutation CLINVAR Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. 18706697

2008
dbSNP: rs113994139
rs113994139
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 CausalMutation CLINVAR STAT3 mutations in the hyper-IgE syndrome. 17881745

2007