Inactivating ATM Gene Mutation

Preferred Label : Inactivating ATM Gene Mutation;

NCIt synonyms : Inactivating A-T Mutated Gene Mutation; Inactivating AT Mutated Gene Mutation; Inactivating ATM Serine/Threonine Kinase Gene Mutation; Inactivating Ataxia Telangiectasia Mutated Gene Mutation; ATM Loss of Function Gene Mutation; ATM Loss of Function Mutation; ATM Gene Inactivation;

NCIt definition : A change in the nucleotide sequence of the ATM gene that either inhibits expression of the serine-protein kinase ATM protein or results in the translation of an inactive serine-protein kinase ATM protein.;

NCI Metathesaurus CUI : CL970636;

Details

Origin ID

C162040;

UMLS CUI

C5206274;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- ATM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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