Cystinosin - CISMeF

Preferred Label : Cystinosin;

Symbol : CTNS;

CISMeF acronym : CTNS;

Type : Gene;

Ensembl ID : ENSG00000040531;

Prefixed ID : *606272;

Details

Origin ID

606272;

UMLS CUI

C1413803;

Automatic exact mappings (from CISMeF team)
- CTNS gene [LOINC component]
- cystine secondary active transmembrane transporter activity [GO term]
- cystinosin, lysosomal cystine transporter [HGNC gene]
- cystinosin, lysosomal cystine transporter [ORDO Gene]
HGNC gene
- cystinosin, lysosomal cystine transporter [HGNC gene]
NCIt concept(s)
- CTNS Gene [NCIt concept]
- CTNS wt Allele [NCIt concept]
- Cystinosin [NCIt concept]
ORDO concept(s)
- cystinosin, lysosomal cystine transporter [ORDO Gene]
Phenotypes related
- Cystinosis, adult nonnephropathic [OMIM Phenotype]
- Cystinosis, late-onset juvenile or adolescent nephropathic type [OMIM Phenotype]
- Cystinosis, nephropathic [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CTNS Gene [NCIt concept]
- CTNS gene [LOINC component]
- cystinosin, lysosomal cystine transporter [HGNC gene]

Keyword's position in hierarchy(ies) :

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