RAD50 wt Allele

Preferred Label : RAD50 wt Allele;

NCIt synonyms : RAD50-2; hRad50; NBSLD; RAD502; RAD50 Homolog, Double Strand Break Repair Protein Gene; RAD50 Homolog (S. cerevisiae) Gene; RAD50 (S. cerevisiae) Homolog Gene; RAD50, S. cerevisiae, Homolog of Gene; RAD50 Double Strand Break Repair Protein wt Allele;

NCIt definition : Human RAD50 wild-type allele is located in the vicinity of 5q31 and is approximately 89 kb in length. This allele, which encodes DNA repair protein RAD50, is involved in DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Mutations in this gene are associated with Nijmegen breakage syndrome-like disorder.;

GenBank Accession Number : NM_005732;

Details

Origin ID

C104709;

UMLS CUI

C3539714;

Automatic exact mappings (from CISMeF team)
- Nijmegen breakage syndrome-like disorder [ORDO Disease]
- Nijmegen breakage syndrome-like disorder [OMIM Phenotype]
- RAD50 double strand break repair protein [ORDO Gene]
OMIM relation
- Rad50 double-strand break repair protein [OMIM gene]
See also inter- (CISMeF)
- Nijmegen breakage syndrome-like disorder [ICD-11 More detail]
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
- 5q31 [NCIt concept]
gene_is_element_in_pathway
- BARD1 Signaling Pathway [NCIt concept]
- Cancer Susceptibility Pathway [NCIt concept]
- Homologous Recombination Pathway [NCIt concept]
- Non-Homologous End-Joining Pathway [NCIt concept]
- Telomerase Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- DNA Topology Regulation [NCIt concept]
- Double Strand Break Repair [NCIt concept]
- Homologous Recombination [NCIt concept]
- Meiotic Recombination [NCIt concept]
- Mitotic Recombination [NCIt concept]
- Recombination Repair [NCIt concept]
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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