Activating EML4/ALK Gene Mutation

Preferred Label : Activating EML4/ALK Gene Mutation;

NCIt synonyms : Activating EML4-ALK Mutation; Activating EML4/ALK Mutation; Activating EML4-ALK Fusion Gene Mutation; Activating EML4/ALK Fusion Gene Mutation; Activating EML4-ALK Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the ALK portion of the EML4/ALK fusion gene that that results in constitutive activation of the EML4/ALK fusion protein and its downstream signaling pathways. These mutations are associated with increased oncogenic potential.;

NCI Metathesaurus CUI : CL552232;

Details

Origin ID

C150436;

UMLS CUI

C4725731;

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
- ALK Gene [NCIt concept]
- EML4 Gene [NCIt concept]
- EML4/ALK Fusion Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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