ALK Gene Mutation

Preferred Label : ALK Gene Mutation;

NCIt synonyms : Anaplastic Lymphoma Kinase Receptor Gene Mutation; ALK Receptor Tyrosine Kinase Gene Mutation; Anaplastic Lymphoma Kinase (Ki-1) Gene Mutation; Anaplastic Lymphoma Receptor Tyrosine Kinase Gene Mutation; CD246 Gene Mutation;

NCIt related terms : ALK Mutation;

NCIt definition : A molecular genetic abnormality that refers to the presence of a mutation in the ALK gene.;

Details

Origin ID

C81945;

UMLS CUI

C2825843;

Automatic exact mappings (from CISMeF team)
- ALK gene mutation [MedDRA LLT]
Molecular abnormality of diseases
- Hereditary Neuroblastoma [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- ALK gene mutation [MedDRA LLT]
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 NP_004295.2:p.F1174C [NCIt concept]
- ALK NP_004295.2:p.F1174L [NCIt concept]
- ALK NP_004295.2:p.F1174V [NCIt concept]
- ALK NP_004295.2:p.F1174X [NCIt concept]
- ALK NP_004295.2:p.F1245L [NCIt concept]
- ALK NP_004295.2:p.F1245X [NCIt concept]
- ALK NP_004295.2:p.G1128A [NCIt concept]
- ALK NP_004295.2:p.I1170N [NCIt concept]
- ALK NP_004295.2:p.I1170S [NCIt concept]
- ALK NP_004295.2:p.I1171N [NCIt concept]
- ALK NP_004295.2:p.K1062M [NCIt concept]
- ALK NP_004295.2:p.L1196M [NCIt concept]
- ALK NP_004295.2:p.M1166R [NCIt concept]
- ALK NP_004295.2:p.R1192P [NCIt concept]
- ALK NP_004295.2:p.R1275Q [NCIt concept]
- ALK NP_004295.2:p.R1275X [NCIt concept]
- ALK NP_004295.2:p.T1087I [NCIt concept]
- ALK NP_004295.2:p.Y1278S [NCIt concept]
- 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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