DKC1 Gene - CISMeF

Preferred Label : DKC1 Gene;

NCIt synonyms : Dyskerin Pseudouridine Synthase 1 Gene;

NCIt related terms : DKC1;

CISMeF acronym : DKC1;

NCIt definition : This gene is involved in both H/ACA small nucleolar RNA ribonucleoprotein assembly and telomerase stabilization and maintenance.;

Details

Origin ID

C113619;

UMLS CUI

C1414056;

Automatic exact mappings (from CISMeF team)
- Dyskerin [OMIM gene]
- dyskerin pseudouridine synthase 1 [ORDO Gene]
HGNC gene
- dyskerin pseudouridine synthase 1 [HGNC gene]
OMIM relation
- Dyskerin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyskerin [OMIM gene]
- dyskerin pseudouridine synthase 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
- H/ACA Ribonucleoprotein Complex Subunit 4 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- DKC1 Gene 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
- X-Linked Dyskeratosis Congenita [NCIt concept]
gene_plays_role_in_process
- RNA Binding [NCIt concept]
- RNA Processing [NCIt concept]
- Telomere Maintenance [NCIt concept]
genetic_biomarker_related_to
- Dyskeratosis Congenita [NCIt concept]
- X-Linked Dyskeratosis Congenita [NCIt concept]

Keyword's position in hierarchy(ies) :

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