Preferred Label : Activating JAK3 Gene Mutation;
NCIt synonyms : Activating LJAK Gene Mutation; Activating L-JAK Gene Mutation; JAK3 Activating Mutation; Activating JAK3 Mutation; Activating JAKL Gene Mutation; Activating JAK-3 Gene Mutation; JAK3 Activating Gene Mutation; Activating Janus Kinase 3 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the JAK3 gene that that results in constitutive
activation of both tyrosine-protein kinase JAK3 and its downstream signaling pathways.;
NCI Metathesaurus CUI : CL937263;
Origin ID : C157593;
UMLS CUI : C4764342;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene