Activating JAK2 Gene Mutation

Preferred Label : Activating JAK2 Gene Mutation;

NCIt synonyms : JAK2 Activating Mutation; Activating JAK2 Mutation; Activating JAK-2 Gene Mutation; Activating JTK10 Gene Mutation; Activating Janus Kinase 2 Gene Mutation; JAK2 Activating Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the JAK2 gene that that results in constitutive activation of both tyrosine-protein kinase JAK2 and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL937270;

Details

Origin ID

C157592;

UMLS CUI

C4763728;

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
- JAK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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