hexosaminidase subunit alpha

Preferred Label : hexosaminidase subunit alpha;

Approved symbol HGNC : HEXA;

Name synonyms HGNC : Tay Sachs disease; GM2 gangliosidosis; beta-hexosaminidase subunit alpha;

Chromosome HGNC : 15q23;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000213614;

Details

Origin ID

HGNC:4878;

UMLS CUI

C1415522;

Automatic exact mappings (from CISMeF team)
- GM2 gangliosidosis [ORDO Disease]
- GM2 gangliosidosis [ICD-11 More detail]
- GM2 gangliosidosis [ICD-10 Sub-category]
- GM2 gangliosidosis [MedDRA Preferred Term]
- GM2 gangliosidosis [DO Concept]
- Hexosaminidase a [OMIM gene]
- gangliosidoses, GM2 [MeSH Descriptor]
- hexosaminidase subunit alpha [ORDO Gene]
- tay sachs disease [EMDN type]
- tay-sachs disease [MeSH Descriptor]
NCIt concept
- HEXA Gene [NCIt concept]
OMIM gene
- Hexosaminidase a [OMIM gene]
Orphanet gene
- hexosaminidase subunit alpha [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HEXA Gene [NCIt concept]
- HEXA gene [LOINC component]
- Hexosaminidase a [OMIM gene]

Keyword's position in hierarchy(ies) :

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