dyskerin pseudouridine synthase 1

Preferred Label : dyskerin pseudouridine synthase 1;

Approved symbol HGNC : DKC1;

Name synonyms HGNC : H/ACA ribonucleoprotein complex subunit 4;

Alias symbols HGNC : Cbf5; NAP57; dyskerin; XAP101; NOLA4;

Chromosome HGNC : Xq28;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000130826;

Details

Origin ID

HGNC:2890;

UMLS CUI

C1414056;

Automatic exact mappings (from CISMeF team)
- Dyskerin [OMIM gene]
- H/ACA Ribonucleoprotein Complex Subunit 4 [NCIt concept]
- dyskerin pseudouridine synthase 1 [ORDO Gene]
NCIt concept
- DKC1 Gene [NCIt concept]
OMIM gene
- Dyskerin [OMIM gene]
Orphanet gene
- dyskerin pseudouridine synthase 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- DKC1 Gene [NCIt concept]
- Dyskerin [OMIM gene]

Keyword's position in hierarchy(ies) :

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