ATM Gene Mutation

Preferred Label : ATM Gene Mutation;

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

NCIt related terms : ATM mutation; ATM;

NCIt definition : A change in the nucleotide sequence of the ATM gene.;

Details

Origin ID

C40459;

UMLS CUI

C1510697;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CRF8 Pathology Review Targeted Genomics Table [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Operational Ontology for Radiation Oncology Prostate Cancer Terminology [NCIt concept]
is_abnormality_of_gene
- ATM Gene [NCIt concept]
- ATM wt Allele [NCIt concept]
is_molecular_abnormality_of_disease
- Ataxia Telangiectasia Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- ATM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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