Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 Biomarker disease CTD_human 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 30055862 2018
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation disease CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 Biomarker disease CTD_human Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. 21294223 2011
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR Rippling is not always electrically silent in rippling muscle disease. 21404291 2011
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling. 20472890 2010
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 19380584 2009
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 18930476 2009
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation disease UNIPROT A new missense mutation in caveolin-3 gene causes rippling muscle disease. 16458928 2006
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR Molecular and muscle pathology in a series of caveolinopathy patients. 15580566 2005
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation disease UNIPROT Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 15668980 2005
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 Biomarker disease CTD_human Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 15668980 2005
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation disease UNIPROT Molecular and muscle pathology in a series of caveolinopathy patients. 15580566 2005
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 Biomarker disease CTD_human Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. 16247063 2005
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR Phenotypic variability associated with Arg26Gln mutation in caveolin3. 15318349 2004
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation disease UNIPROT Two novel CAV3 gene mutations in Japanese families. 15564037 2004
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation disease UNIPROT Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. 12666119 2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. 12839838 2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases. 14633633 2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 12939441 2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation disease UNIPROT Consequences of a novel caveolin-3 mutation in a large German family. 12557291 2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation disease UNIPROT Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 12939441 2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR Caveolin-3 gene mutation in Japanese with rippling muscle disease. 12807393 2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 11805270 2002
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 11756609 2001
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation disease UNIPROT The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. 11532985 2001