Activating ALK Gene Mutation

Preferred Label : Activating ALK Gene Mutation;

NCIt synonyms : Activating ALK Receptor Tyrosine Kinase Gene Mutation; Activating Anaplastic Lymphoma Receptor Tyrosine Kinase Gene Mutation; Activating CD246 Gene Mutation; Activating Anaplastic Lymphoma Kinase Receptor Gene Mutation; Activating ALK Mutation;

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

NCI Metathesaurus CUI : CL544716;

Details

Origin ID

C146722;

UMLS CUI

C4687440;

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]
gene_mutant_encodes_gene_product_sequence_variation
- ALK Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- ALK Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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