CAPN3 Gene - CISMeF

Preferred Label : CAPN3 Gene;

NCIt synonyms : Calpain 3 Gene; CAPN3;

NCIt definition : This gene plays a role in thiol-protease activity in muscle cells.;

Details

Origin ID

C192747;

UMLS CUI

C1413113;

HGNC gene
- calpain 3 [HGNC gene]
OMIM relation
- Calpain 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CAPN3 gene [LOINC component]
- Calpain 3 [OMIM gene]
- calpain 3 [HGNC gene]
gene_encodes_gene_product
- Calpain-3 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Limb-Girdle Muscular Dystrophy Type 2A [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Protein Cleavage [NCIt concept]
- Protein Degradation Process [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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