POLD1 wt Allele

Preferred Label : POLD1 wt Allele;

NCIt synonyms : DNA Polymerase Delta 1, Catalytic Subunit wt Allele; CDC2; Polymerase (DNA Directed), Delta 1, Catalytic Subunit (125kD) Gene; POLD; CRCS10; CDC2 Homolog (S. cerevisiae) Gene; Polymerase, DNA, Delta Gene; MDPL; Polymerase (DNA) Delta 1, Catalytic Subunit Gene; Polymerase (DNA Directed), Delta 1, Catalytic Subunit Gene; Polymerase (DNA-Directed), Delta 1, Catalytic Subunit Gene;

NCIt definition : Human POLD1 wild-type allele is located in the vicinity of 19q13.3 and is approximately 34 kb in length. This allele, which encodes DNA polymerase delta catalytic subunit protein, plays a role in DNA replication. Mutation of the gene may be associated with increased susceptibility to colorectal malignancies.;

GenBank Accession Number : NM_001256849;

Details

Origin ID

C106225;

UMLS CUI

C3811768;

Automatic exact mappings (from CISMeF team)
- Colorectal cancer, susceptibility to, 10 [OMIM Phenotype]
- Cyclin-dependent kinase 1 [OMIM gene]
- DNA polymerase delta 1, catalytic subunit [ORDO Gene]
- Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia [ORDO Disease]
- Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome [OMIM Phenotype]
- Polymerase (dna-directed), delta 1, catalytic subunit [OMIM gene]
- paralaminar part of medial dorsal nucleus [UBERON concept]
OMIM relation
- Polymerase (dna-directed), delta 1, catalytic subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Polymerase Proofreading Associated Polyposis [NCIt concept]
gene_is_element_in_pathway
- Base Excision Repair Pathway [NCIt concept]
- DNA Replication Pathway [NCIt concept]
- Homologous Recombination Pathway [NCIt concept]
- Mismatch Repair Pathway [NCIt concept]
- Nucleotide Excision Repair Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Replication [NCIt concept]
- DNA Replication Proofreading [NCIt concept]
- Excision Repair [NCIt concept]
- Polymerization [NCIt concept]
- S Phase Process [NCIt concept]
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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