pantothenate kinase 2

Preferred Label : pantothenate kinase 2;

Approved symbol HGNC : PANK2;

Name synonyms HGNC : Hallervorden-Spatz syndrome; pantothenate kinase-associated neurodegeneration;

Alias symbols HGNC : FLJ11729; HARP; HSS; PKAN;

Chromosome HGNC : 20p13;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000125779;

Details

Origin ID

HGNC:15894;

UMLS CUI

C1423814;

Automatic exact mappings (from CISMeF team)
- Brain Iron Accumulation Type I Syndrome [NCIt concept]
- Hallermann-streiff syndrome [OMIM Phenotype]
- Neurodegeneration with brain iron accumulation 1 [OMIM Phenotype]
- Pantothenate Kinase-Associated Neurodegeneration [NCIt concept]
- Pantothenate kinase 2 [OMIM gene]
- Pantothenate kinase-associated neurodegeneration [MedDRA LLT]
- Pantothenate kinase-associated neurodegeneration [ORDO Disease]
- pantothenate Kinase-Associated neurodegeneration [MeSH concept]
- pantothenate kinase 2 [ORDO Gene]
- pantothenate kinase-associated neurodegeneration [MeSH Descriptor]
- pantothenate kinase-associated neurodegeneration [DO Concept]
NCIt concept
- PANK2 Gene [NCIt concept]
OMIM gene
- Pantothenate kinase 2 [OMIM gene]
Orphanet gene
- pantothenate kinase 2 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PANK2 Gene [NCIt concept]
- PANK2 gene [LOINC component]
- Pantothenate kinase 2 [OMIM gene]

Keyword's position in hierarchy(ies) :

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