JAK2 Exon 12 Mutation

Preferred Label : JAK2 Exon 12 Mutation;

NCIt synonyms : JTK10 Exon 12 Mutation; Janus Kinase 2 Exon 12 Mutation; JAK2 Exon 12 Gene Mutation; JAK-2 Exon 12 Mutation;

NCIt definition : A molecular genetic abnormality indicating the presence of a mutation in exon 12 of the JAK2 gene.;

NCI Metathesaurus CUI : CL950768;

Details

Origin ID

C158677;

UMLS CUI

C5203876;

Molecular abnormality of diseases
- Polycythemia Vera [NCIt concept]
- Polycythemia Vera, Polycythemic Phase [NCIt concept]
- Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase [NCIt concept]
- Refractory Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase [NCIt concept]
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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