| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Rippling is not always electrically silent in rippling muscle disease. | 21404291 | 2011 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling. | 20472890 | 2010 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. | 19380584 | 2009 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Phenotypic variability in a Spanish family with a Caveolin-3 mutation. | 18930476 | 2009 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Molecular and muscle pathology in a series of caveolinopathy patients. | 15580566 | 2005 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Phenotypic variability associated with Arg26Gln mutation in caveolin3. | 15318349 | 2004 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. | 12839838 | 2003 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. | 12939441 | 2003 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Caveolin-3 gene mutation in Japanese with rippling muscle disease. | 12807393 | 2003 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | 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 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. | 11805270 | 2002 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. | 11756609 | 2001 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. | 11431690 | 2001 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | CausalMutation | CLINVAR | Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. | 10746614 | 2000 | |||||
RIPPLING MUSCLE DISEASE 2 (disorder)
|
0.800 | GeneticVariation | UNIPROT |