Caveolin 3 - CISMeF

Preferred Label : Caveolin 3;

Symbol : CAV3;

CISMeF acronym : CAV3;

Type : Gene;

Alternative titles and symbols : M-CAVEOLIN;

Ensembl ID : ENSG00000182533;

Prefixed ID : *601253;

Details

Origin ID

601253;

UMLS CUI

C1413146;

Automatic exact mappings (from CISMeF team)
- CAV3 gene [LOINC component]
- caveolin 3 [ORDO Gene]
- caveolin 3 [MeSH concept]
- caveolin 3 [MeSH Descriptor]
- caveolin 3 [HGNC gene]
HGNC gene
- caveolin 3 [HGNC gene]
NCIt concept(s)
- CAV3 Gene [NCIt concept]
- CAV3 wt Allele [NCIt concept]
- Caveolin-3 [NCIt concept]
ORDO concept(s)
- caveolin 3 [ORDO Gene]
Phenotypes related
- Cardiomyopathy, familial hypertrophic, 1 [OMIM Phenotype]
- Creatine phosphokinase, elevated serum [OMIM Phenotype]
- Long qt syndrome 9 [OMIM Phenotype]
- Myopathy, distal, tateyama type [OMIM Phenotype]
- Rippling muscle disease 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CAV3 Gene [NCIt concept]
- CAV3 gene [LOINC component]
- caveolin 3 [HGNC gene]

Keyword's position in hierarchy(ies) :

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