RTEL1 Gene - CISMeF

Preferred Label : RTEL1 Gene;

NCIt synonyms : Regulator of Telomere Elongation Helicase 1 Gene;

NCIt related terms : RTEL1;

CISMeF acronym : RTEL1;

NCIt definition : This gene plays a role in telomere maintenance and the regulation of meiotic crossover recombination.;

Details

Origin ID

C134632;

UMLS CUI

C1539711;

Automatic exact mappings (from CISMeF team)
- Regulator of telomere elongation helicase 1 [OMIM gene]
- regulator of telomere elongation helicase 1 [ORDO Gene]
HGNC gene
- regulator of telomere elongation helicase 1 [HGNC gene]
OMIM relation
- Regulator of telomere elongation helicase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- RTEL1 gene [LOINC component]
- Regulator of telomere elongation helicase 1 [OMIM gene]
- regulator of telomere elongation helicase 1 [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]
gene_encodes_gene_product
- Regulator of Telomere Elongation Helicase 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- RTEL1 Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Dyskeratosis Congenita, Autosomal Recessive 5 [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- DNA Recombination Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Telomere Length Maintenance [NCIt concept]
genetic_biomarker_related_to
- Dyskeratosis Congenita [NCIt concept]
- Dyskeratosis Congenita, Autosomal Recessive 5 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients