cystinosin, lysosomal cystine transporter

Preferred Label : cystinosin, lysosomal cystine transporter;

Approved symbol HGNC : CTNS;

Alias symbols HGNC : PQLC4; SLC66A4; CTNS-LSB;

Chromosome HGNC : 17p13.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000040531;

Details

Origin ID

HGNC:2518;

UMLS CUI

C1413803;

Automatic exact mappings (from CISMeF team)
- Cystinosin [OMIM gene]
- Cystinosis, nephropathic [OMIM Phenotype]
- cystinosin, lysosomal cystine transporter [ORDO Gene]
NCIt concept
- CTNS Gene [NCIt concept]
OMIM gene
- Cystinosin [OMIM gene]
Orphanet gene
- cystinosin, lysosomal cystine transporter [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CTNS Gene [NCIt concept]
- CTNS gene [LOINC component]
- Cystinosin [OMIM gene]

Keyword's position in hierarchy(ies) :

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