BLM wt Allele - CISMeF

Preferred Label : BLM wt Allele;

NCIt synonyms : RECQ2; RECQL2; RECQL3; BS; Bloom Syndrome wt Allele;

NCIt definition : Human BLM wild-type allele is located in the vicinity of 15q26.1 and is approximately 98 kb in length. This allele, which encodes Bloom syndrome protein, plays a role in the unwinding of single- and double-stranded DNA in a 3'-5' direction during DNA replication and repair. Defects in the BLM gene cause Bloom syndrome.;

GenBank Accession Number : NM_000057;

Details

Origin ID

C49406;

UMLS CUI

C1706025;

False automatic mappings
- Bloom syndrome [ORDO Disease]
- Bowel sounds (observable entity) [SNOMED CT concept]
OMIM relation
- Recq protein-like 3 [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_has_abnormality
- BLM Gene Mutation [NCIt concept]
gene_has_physical_location
- 15: 89061606-89159602 [NCIt concept]
gene_in_chromosomal_location
- 15q26.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Bloom Syndrome [NCIt concept]
gene_is_element_in_pathway
- Homologous Recombination Pathway [NCIt concept]
- Telomerase Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- DNA Recombination Process [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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