NBN Gene - CISMeF

Preferred Label : NBN Gene;

NCIt synonyms : Nibrin Gene; NBS1 Gene;

NCIt related terms : NBN;

CISMeF acronym : NBN;

NCIt definition : This gene plays a role in DNA repair and cell cycle checkpoints.;

Details

Origin ID

C21178;

UMLS CUI

C1334862;

HGNC gene
- nibrin [HGNC gene]
OMIM relation
- Nibrin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- NBN gene [LOINC component]
- Nibrin [OMIM gene]
- nibrin [HGNC 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
- Acute Lymphoblastic Leukemia [NCIt concept]
- Nijmegen Breakage Syndrome [NCIt concept]
gene_encodes_gene_product
- Nibrin [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Deleterious NBN Gene Mutation [NCIt concept]
- Inactivating NBN Gene Mutation [NCIt concept]
- NBN Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Nijmegen Breakage Syndrome [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Cell Cycle Checkpoint [NCIt concept]
- DNA Recombination Process [NCIt concept]
- DNA Repair [NCIt concept]
- Double Strand Break Repair [NCIt concept]
- Homologous Recombination [NCIt concept]
- Recombination Repair [NCIt concept]
- Telomere Maintenance [NCIt concept]
- V(D)J Recombination [NCIt concept]
genetic_biomarker_related_to
- Nijmegen Breakage Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

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