rs193922716, STAT3

N. diseases: 3
Disease: STAT3 Gain of Function ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
STAT3 Gain of Function
CUI: C4288261
Disease: STAT3 Gain of Function
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
STAT3 Gain of Function
CUI: C4288261
Disease: STAT3 Gain of Function
0.700 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