Glucosidase, beta, acid

Preferred Label : Glucosidase, beta, acid;

Symbol : GBA;

CISMeF acronym : GBA;

Type : Gene;

Alternative titles and symbols : Acid beta-glucosidase; Beta-glucosidase, acid; GBA1; BETA-GC; GLUCOCEREBROSIDASE; GLUCOSYLCERAMIDASE;

Included titles and symbols : Glucocerebrosidase pseudogene; GBAP;

Ensembl ID : ENSG00000177628;

Prefixed ID : *606463;

Détails

Origin ID

606463;

UMLS CUI

C1414998;

Automatic exact mappings (from CISMeF team)
- GBA gene [LOINC component]
- GBA1 Gene [NCIt concept]
- GBA1 wt Allele [NCIt concept]
- Gbaya Language [NCIt concept]
- Lysosomal Acid Glucosylceramidase [NCIt concept]
- glucosylceramidase beta 1 [ORDO Gene]
- glucosylceramidase beta 1 [HGNC gene]
HGNC gene
- glucosylceramidase beta 1 [HGNC gene]
NCIt concept(s)
- GBA1 Gene [NCIt concept]
- GBA1 wt Allele [NCIt concept]
- Lysosomal Acid Glucosylceramidase [NCIt concept]
ORDO concept(s)
- glucosylceramidase beta 1 [ORDO Gene]
Phenotypes related
- Dementia, lewy body [OMIM Phenotype]
- Gaucher disease, perinatal lethal [OMIM Phenotype]
- Gaucher disease, type I [OMIM Phenotype]
- Gaucher disease, type II [OMIM Phenotype]
- Gaucher disease, type III [OMIM Phenotype]
- Gaucher disease, type iiic [OMIM Phenotype]
- Parkinson disease, late-onset [OMIM Phenotype]
See also inter- (CISMeF)
- Glucosylceramidase [LOINC component]
- Glucosylceramidase (substance) [SNOMED CT concept]
- Lysosomal Acid Glucosylceramidase [NCIt concept]
- glucosylceramidase [SNOMED Notion]
- glucosylceramidase [MeSH concept]
- glucosylceramidase [MeSH Descriptor]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GBA gene [LOINC component]
- GBA1 Gene [NCIt concept]
- glucosylceramidase beta 1 [HGNC gene]

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