GBA1 Gene - CISMeF

Preferred Label : GBA1 Gene;

NCIt synonyms : Glucosylceramidase Beta 1 Gene; GBA; GBA1;

NCIt related terms : GBA Gene;

CISMeF acronym : GBA;

NCIt definition : This gene plays a role in the turnover of cellular membranes through the hydrolysis of glucosylceramides and other complex lipids.;

Details

Origin ID

C104421;

UMLS CUI

C1414998;

Automatic exact mappings (from CISMeF team)
- GBA gene [LOINC component]
- Glucosidase, beta, acid [OMIM gene]
- glucosylceramidase beta 1 [ORDO Gene]
HGNC gene
- glucosylceramidase beta 1 [HGNC gene]
OMIM relation
- Glucosidase, beta, acid [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GBA gene [LOINC component]
- Glucosidase, beta, acid [OMIM gene]
- glucosylceramidase beta 1 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Lysosomal Acid Glucosylceramidase [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Gaucher Disease [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Biosynthetic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Negative Regulation of Inflammatory Response Process [NCIt concept]
- Post-Translational Regulation [NCIt concept]
genetic_biomarker_related_to
- Glucosylceramidase Beta Measurement [NCIt concept]

Keyword's position in hierarchy(ies) :

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