Gene: CAV3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 GeneticVariation disease BEFREE Long QT syndrome caveolin-3 mutations differentially modulate K<sub>v</sub> 4 and Ca<sub>v</sub> 1.2 channels to contribute to action potential prolongation. 30588629 2019
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 Biomarker disease BEFREE However, while WT cav-3 alone had no significant effect on HCN4 current activation, all LQTS-associated cav-3 mutations significantly accelerated HCN4 activation kinetics. 28648120 2017
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 GeneticVariation disease CLINVAR CAV3 mutation in a patient with transient hyperCKemia and myalgia. 27772553 2017
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 GeneticVariation disease BEFREE Probands with LQTS (n=167) were screened for mutations in CAV3 using direct DNA sequencing. 24021552 2013
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 Biomarker disease BEFREE Mutations in CAV3-encoding caveolin-3 (Cav3) have been implicated in type 9 long QT syndrome (LQT9) and sudden infant death syndrome (SIDS). 23541953 2013
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 GeneticVariation disease BEFREE Mutations in CAV3 cause LQT syndrome 9 (LQT9). 23640888 2013
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 GeneticVariation disease CLINVAR Myotonia associated with caveolin-3 mutation. 22581547 2012
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 CausalMutation disease CLINVAR Rippling is not always electrically silent in rippling muscle disease. 21404291 2011
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 CausalMutation disease CLINVAR Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling. 20472890 2010
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 Biomarker disease BEFREE Many other genes involved in LQTS have been described recently(KCNJ2, AKAP9, ANK2, CACNA1C, SCNA4B, SNTA1, and CAV3). 20809527 2010
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 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 		0.190 CausalMutation disease CLINVAR Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 18930476 2009
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 CausalMutation disease CLINVAR Caveolinopathy--new mutations and additional symptoms. 18583131 2008
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 Biomarker disease BEFREE Molecular screening of 7 genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CAV3) associated with LQTS was performed with denaturing high-performance liquid chromatography and nucleotide sequencing of genomic DNA from 201 cases diagnosed as SIDS according to the Nordic Criteria, and from 182 infant and adult controls. 17210839 2007
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 Biomarker disease BEFREE We recently established CAV3-encoded caveolin-3 as a novel LQTS-associated gene with mutations producing a gain-of-function, LQT3-like molecular/cellular phenotype. 17275750 2007
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 GeneticVariation disease BEFREE Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 17060380 2006
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 GeneticVariation disease CLINVAR Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 15668980 2005
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 CausalMutation disease CLINVAR Molecular and muscle pathology in a series of caveolinopathy patients. 15580566 2005
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 CausalMutation disease CLINVAR Phenotypic variability associated with Arg26Gln mutation in caveolin3. 15318349 2004
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 GeneticVariation disease CLINVAR A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. 15099591 2004
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 GeneticVariation disease CLINVAR Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. 12666119 2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 CausalMutation disease CLINVAR Caveolin-3 gene mutation in Japanese with rippling muscle disease. 12807393 2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.190 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 		0.190 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 		0.190 CausalMutation disease CLINVAR Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 11805270 2002