CAV3, caveolin 3, 859

N. diseases: 163; N. variants: 56
Disease: Creatine phosphokinase serum increased ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 Biomarker phenotype CTD_human
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 CausalMutation phenotype CLINVAR
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 Biomarker phenotype HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation phenotype UNIPROT Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 10746614 2000
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation phenotype UNIPROT Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. 12082049 2002
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation phenotype UNIPROT A CAV3 microdeletion differentially affects skeletal muscle and myocardium. 14663034 2003
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation phenotype UNIPROT A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. 15099591 2004
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation phenotype UNIPROT Molecular and muscle pathology in a series of caveolinopathy patients. 15580566 2005