CAV3 Gene - CISMeF

Preferred Label : CAV3 Gene;

NCIt synonyms : Caveolin 3 Gene; CAV3;

NCIt definition : This gene plays a role in caveolae formation, muscle development and sarcolemma repair in muscle cells.;

Details

Origin ID

C192754;

UMLS CUI

C1413146;

HGNC gene
- caveolin 3 [HGNC gene]
OMIM relation
- Caveolin 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CAV3 gene [LOINC component]
- Caveolin 3 [OMIM gene]
- caveolin 3 [HGNC gene]
gene_encodes_gene_product
- Caveolin-3 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- HyperCKmia [NCIt concept]
- Limb-Girdle Muscular Dystrophy Type 1C [NCIt concept]
- Rippling Muscle Disease 2 [NCIt concept]
gene_plays_role_in_process
- Myogenesis [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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