Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994139
rs113994139
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
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
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
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: rs113994139
rs113994139
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
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: rs113994139
rs113994139
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		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: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR STAT3 mutations in the hyper-IgE syndrome. 17881745

2007