Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation UNIPROT Molecular and muscle pathology in a series of caveolinopathy patients. 15580566

2005
Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation UNIPROT A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. 15099591

2004
Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation UNIPROT A CAV3 microdeletion differentially affects skeletal muscle and myocardium. 14663034

2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation UNIPROT Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. 12082049

2002
Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation UNIPROT Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 10746614

2000