Dyskerin - CISMeF

Preferred Label : Dyskerin;

Symbol : DKC1;

CISMeF acronym : DKC1;

Type : Gene;

Alternative titles and symbols : Nopp140-associated protein, 57-kd; NAP57;

Ensembl ID : ENSG00000130826;

Prefixed ID : *300126;

Details

Origin ID

300126;

UMLS CUI

C1414056;

Automatic exact mappings (from CISMeF team)
- DKC1 Gene [NCIt concept]
- DKC1 wt Allele [NCIt concept]
- H/ACA Ribonucleoprotein Complex Subunit 4 [NCIt concept]
- NAP57 [MeSH Supplementary Concept]
- NAP57 [MeSH concept]
- dyskerin pseudouridine synthase 1 [ORDO Gene]
- dyskerin pseudouridine synthase 1 [HGNC gene]
HGNC gene
- dyskerin pseudouridine synthase 1 [HGNC gene]
NCIt concept(s)
- DKC1 Gene [NCIt concept]
- DKC1 wt Allele [NCIt concept]
- H/ACA Ribonucleoprotein Complex Subunit 4 [NCIt concept]
ORDO concept(s)
- dyskerin pseudouridine synthase 1 [ORDO Gene]
Phenotypes related
- Dyskeratosis congenita, X-linked [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- DKC1 Gene [NCIt concept]
- dyskerin pseudouridine synthase 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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