TERT Gene - CISMeF

Preferred Label : TERT Gene;

NCIt synonyms : Telomerase Reverse Transcriptase Gene;

NCIt related terms : TERT;

CISMeF acronym : TERT;

NCIt definition : This gene is involved in cell cycle regulation and telomere maintenance.;

Details

Origin ID

C18173;

UMLS CUI

C1367342;

Automatic exact mappings (from CISMeF team)
- Telomerase reverse transcriptase [OMIM gene]
- telomerase [MeSH Descriptor]
- telomerase reverse transcriptase [ORDO Gene]
HGNC gene
- telomerase reverse transcriptase [HGNC gene]
OMIM relation
- Telomerase reverse transcriptase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Telomerase reverse transcriptase [OMIM gene]
- telomerase reverse transcriptase [ORDO Gene]
- telomerase reverse transcriptase [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
- Neuroblastoma [NCIt concept]
gene_encodes_gene_product
- Telomere Reverse Transcriptase [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- TERT Gene Mutation [NCIt concept]
- TERT Gene Rearrangement [NCIt concept]
- TERT NM_198253.2:c.1-124C>T [NCIt concept]
- TERT NM_198253.2:c.1-146C>T [NCIt concept]
- TERT Promoter Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
gene_mapped_to_disease
- Dyskeratosis Congenita, Autosomal Dominant 2 [NCIt concept]
- TERT Deficiency [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Regulation Process [NCIt concept]
- Telomere Maintenance [NCIt concept]
genetic_biomarker_related_to
- Dyskeratosis Congenita [NCIt concept]
- Dyskeratosis Congenita, Autosomal Dominant 2 [NCIt concept]
- TERT Deficiency [NCIt concept]
- TERT Promoter Mutation Analysis [NCIt concept]
- TERT Promoter Mutation Negative [NCIt concept]

Keyword's position in hierarchy(ies) :

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