Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.740 GeneticVariation disease BEFREE In our studies using native human ventricular tissue, Kir2.x co-localizes with caveolin-3 and significance of the association between Kir2.x and caveolin-3 is emphasized in relation to mutations in the gene which encodes caveolin-3, <i>CAV3</i>, associated with Long QT Syndrome 9 (LQT9). 30473666 2018
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.740 GeneticVariation disease BEFREE HEK-293 cells expressing SCN5A and LQT9 mutation Cav3-F97C resulted in a 2-fold increase in late INa compared to Cav3-WT. 23541953 2013
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.740 Biomarker disease BEFREE The interaction of caveolin 3 protein with the potassium inward rectifier channel Kir2.1: physiology and pathology related to long qt syndrome 9 (LQT9). 23640888 2013
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.740 GeneticVariation disease BEFREE Mutations in the caveolin-3 gene (CAV3) have been linked with the congenital long QT syndrome (LQT9), and mutations in caveolar-localized ion channels may contribute to other inherited arrhythmias. 19351512 2009
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.740 GeneticVariation disease UNIPROT Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 17275750 2007
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.740 GeneticVariation disease UNIPROT Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 17060380 2006
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.740 SusceptibilityMutation disease CLINVAR
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.740 CausalMutation disease CLINVAR
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.740 Biomarker disease CTD_human
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.740 Biomarker disease GENOMICS_ENGLAND