POLE Gene - CISMeF

Preferred Label : POLE Gene;

NCIt synonyms : DNA Polymerase Epsilon, Catalytic Subunit Gene;

NCIt related terms : POLE;

CISMeF acronym : POLE;

NCIt definition : This gene is involved in both DNA replication and DNA base-excision repair.;

Details

Origin ID

C106232;

UMLS CUI

C1418729;

Automatic exact mappings (from CISMeF team)
- DNA polymerase epsilon, catalytic subunit [ORDO Gene]
- Poles (ethnic group) [SNOMED CT concept]
- Polymerase, dna, epsilon [OMIM gene]
- pole [Radlex concept]
- poles [SNOMED Notion]
- rod [UCUM unit]
HGNC gene
- DNA polymerase epsilon, catalytic subunit [HGNC gene]
OMIM relation
- Polymerase (dna-directed), delta 1, catalytic subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- DNA polymerase epsilon, catalytic subunit [HGNC gene]
- Polymerase, dna, epsilon [OMIM gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- DNA Polymerase Epsilon Catalytic Subunit A [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Deleterious POLE Gene Mutation [NCIt concept]
- POLE Exonuclease Domain Mutation [NCIt concept]
- POLE Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Polymerase Proofreading Associated Polyposis [NCIt concept]
gene_mapped_to_disease
- Polymerase Proofreading Associated Polyposis [NCIt concept]
gene_plays_role_in_process
- DNA Replication [NCIt concept]
- Excision Repair [NCIt concept]
- G1/S Transition Checkpoint [NCIt concept]
- Polymerization [NCIt concept]
- S Phase Process [NCIt concept]
- Telomere Maintenance [NCIt concept]
genetic_biomarker_related_to
- POLE Gene Mutation Negative [NCIt concept]

Keyword's position in hierarchy(ies) :

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