ATM Gene - CISMeF

Preferred Label : ATM Gene;

NCIt synonyms : ATM Serine/Threonine Kinase Gene;

NCIt related terms : ATM;

CISMeF acronym : ATM;

NCIt definition : This gene is involved in apoptosis, DNA repair and cell cycle regulation.;

Details

Origin ID

C18583;

UMLS CUI

C0919524;

Automatic exact mappings (from CISMeF team)
- ATM gene [LOINC component]
- ATM serine/threonine kinase [ORDO Gene]
- Atm serine/threonine kinase [OMIM gene]
- Atmosphere [LOINC System]
- atmosphere (qualifier value) [SNOMED CT concept]
- temporomandibular joint [MeSH Descriptor]
HGNC gene
- ATM serine/threonine kinase [HGNC gene]
OMIM relation
- Atm serine/threonine kinase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ATM gene [LOINC component]
- ATM serine/threonine kinase [HGNC gene]
- Atm serine/threonine kinase [OMIM gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_associated_with_disease
- Breast Carcinoma [NCIt concept]
- Leukemia [NCIt concept]
- Lymphoma [NCIt concept]
gene_encodes_gene_product
- Serine-Protein Kinase ATM [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- ATM Gene Mutation [NCIt concept]
gene_involved_in_molecular_abnormality
- ATM Biallelic Inactivation [NCIt concept]
- ATM Gene Deletion [NCIt concept]
- ATM Gene Mutation [NCIt concept]
- ATM Monoallelic Inactivation [NCIt concept]
- ATM Protein Variant [NCIt concept]
- Biallelic ATM Gene Mutation [NCIt concept]
- Deleterious ATM Gene Mutation [NCIt concept]
- Germline ATM Gene Mutation [NCIt concept]
- Homozygous ATM Gene Mutation [NCIt concept]
- Inactivating ATM Gene Mutation [NCIt concept]
- Loss of Chromosome 11q ATM Gene Locus [NCIt concept]
- Loss of Serine-Protein Kinase ATM Expression [NCIt concept]
- Somatic ATM Gene Mutation [NCIt concept]
- del11q22.3/ATM Locus [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Ataxia Telangiectasia Syndrome [NCIt concept]
gene_mapped_to_disease
- Ataxia Telangiectasia Syndrome [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- DNA Repair [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- T-Cell Differentiation [NCIt concept]
genetic_biomarker_related_to
- ATM Deficient Tumor [NCIt concept]
- ATM Gene Mutation Negative [NCIt concept]
- ATM Proficient Tumor [NCIt concept]
- Ataxia Telangiectasia Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

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