ATPase copper transporting beta

Preferred Label : ATPase copper transporting beta;

Approved symbol HGNC : ATP7B;

Name synonyms HGNC : Wilson disease; copper pump 2; copper-transporting ATPase 2;

Chromosome HGNC : 13q14.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000123191;

Détails

Origin ID

HGNC:870;

UMLS CUI

C1412689;

Automatic exact mappings (from CISMeF team)
- ATPase copper transporting beta [ORDO Gene]
- Atpase, cu(2+)-transporting, beta polypeptide [OMIM gene]
- Copper-Transporting ATPase 2 [NCIt concept]
- Copper-transporting ATPases [MeSH Descriptor]
- Hepatolenticular Degeneration [NCIt concept]
- Wilson disease [OMIM Phenotype]
- Wilson disease [ORDO Disease]
- Wilson disease [DO Concept]
- Wilson disease [PASCAL descriptor]
- Wilson disease [ICD-11 Sub-sub category]
- Wilson's disease [MedDRA LLT]
- Wilson's disease [Blood Transfusion thesaurus concept]
- Wilson's disease (disorder) [SNOMED CT concept]
- hepatolenticular degeneration [MeSH Descriptor]
- wilson disease [MedlinePlus Topic]
- wilson's disease [SNOMED Notion]
NCIt concept
- ATP7B Gene [NCIt concept]
OMIM gene
- Atpase, cu(2+)-transporting, beta polypeptide [OMIM gene]
Orphanet gene
- ATPase copper transporting beta [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ATP7B Gene [NCIt concept]
- ATP7B gene [LOINC component]
- Atpase, cu(2+)-transporting, beta polypeptide [OMIM gene]

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