Activating JAK3 Gene Mutation

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;

Details

Origin ID

C157593;

UMLS CUI

C4764342;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- JAK3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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