Preferred Label : Activating STAT3 Gene Mutation;
NCIt synonyms : STAT3 Activating Mutation; STAT3 Gain of Function Gene Mutation; Activating STAT3 Mutation; STAT3 Gain of Function; STAT3 Activating Gene Mutation; STAT3 Gain of Function Mutation;
NCIt related terms : STAT-3 GOF;
NCIt definition : A mutation in the STAT3 gene that results in an increase in cytokine-related function.
STAT3 mutations of this type are associated with infantile-onset multisystem autoimmune
disease.;
NCI Metathesaurus CUI : CL504907;
Origin ID : C126345;
UMLS CUI : C4288261;
- Semantic type(s)
- molecular_abnormality_involves_gene