BLM Gene - CISMeF

Preferred Label : BLM Gene;

NCIt synonyms : Bloom Syndrome Gene;

NCIt related terms : BLM;

CISMeF acronym : BLM;

NCIt definition : This gene plays a role in DNA unwinding and recombination-mediated telomere lengthening.;

Détails

Origin ID

C20805;

UMLS CUI

C1337098;

Automatic exact mappings (from CISMeF team)
- BLM RecQ like helicase [ORDO Gene]
- BLM gene [LOINC component]
- Bloom syndrome [ORDO Disease]
- Bloom syndrome [OMIM Phenotype]
- Recq protein-like 3 [OMIM gene]
- bloom syndrome [MeSH Descriptor]
- milk banks [MeSH Descriptor]
HGNC gene
- BLM RecQ like helicase [HGNC gene]
OMIM relation
- Recq protein-like 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BLM RecQ like helicase [HGNC gene]
- BLM gene [LOINC component]
- Recq protein-like 3 [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_encodes_gene_product
- Bloom Syndrome Protein [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- BLM Gene Mutation [NCIt concept]
gene_involved_in_molecular_abnormality
- BLM Gene Mutation [NCIt concept]
- BLM NM_000057.3:c.2207_2212delinsTAGATTC [NCIt concept]
- BLM NP_000048.1:p.Y736fs*4 [NCIt concept]
- BLM Protein Variant [NCIt concept]
- Deleterious BLM Gene Mutation [NCIt concept]
- Inactivating BLM Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Bloom Syndrome [NCIt concept]
gene_mapped_to_disease
- Bloom Syndrome [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- DNA Recombination Process [NCIt concept]
- DNA Topology Regulation [NCIt concept]
- Hydrolysis [NCIt concept]
genetic_biomarker_related_to
- Bloom Syndrome [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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