Deleterious ATM Gene Mutation

Preferred Label : Deleterious ATM Gene Mutation;

NCIt synonyms : Deleterious ATM Serine/Threonine Kinase Gene Mutation; Deleterious Ataxia Telangiectasia Mutated Gene Mutation; Deleterious AT Mutated Gene Mutation; Deleterious A-T Mutated Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the ATM gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL522094;

Details

Origin ID

C134513;

UMLS CUI

C4525197;

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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