Non-synonymous JAK Family Gene Mutation

Preferred Label : Non-synonymous JAK Family Gene Mutation;

NCIt synonyms : JAK Family Gene Missense Mutation; Non-synonymous Janus Kinase Family Gene Mutation;

NCIt definition : A point mutation in a gene that is a member of the JAK gene family that encodes an amino acid substitution in a JAK family protein.;

NCI Metathesaurus CUI : CL524454;

Details

Origin ID

C136641;

UMLS CUI

C4526849;

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]
related_to_genetic_biomarker
- JAK1 Gene [NCIt concept]
- JAK2 Gene [NCIt concept]
- JAK3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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