rs116840778, SSUH2;CAV3

N. diseases: 7
Disease: Long QT Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Rippling is not always electrically silent in rippling muscle disease. 21404291 2011
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling. 20472890 2010
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 18930476 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 19380584 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Caveolinopathy--new mutations and additional symptoms. 18583131 2008
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Molecular and muscle pathology in a series of caveolinopathy patients. 15580566 2005
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Phenotypic variability associated with Arg26Gln mutation in caveolin3. 15318349 2004
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation 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
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 12939441 2003
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Caveolin-3 gene mutation in Japanese with rippling muscle disease. 12807393 2003
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 11805270 2002
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 11431690 2001
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 11756609 2001
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 10746614 2000