| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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G | 0.820 | SusceptibilityMutation | CLINVAR | |||||||||
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0.820 | GeneticVariation | UNIPROT | Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. | 17060380 | 2006 | |||||||
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0.820 | GeneticVariation | UNIPROT | Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. | 17275750 | 2007 | |||||||
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0.820 | GeneticVariation | BEFREE | Here, we determine the effect of long-QT syndrome-9-<i>CAV3</i> mutation F97C on Kir2.x homo- and heterotetramers and model-associated arrhythmia mechanisms. | 29326130 | 2018 | |||||||
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0.820 | GeneticVariation | 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 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. | 17275750 | 2007 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. | 17060380 | 2006 | |||||||
|
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|
0.800 | GeneticVariation | UNIPROT | Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. | 17060380 | 2006 | |||||||
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|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
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|
0.800 | GeneticVariation | UNIPROT | Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. | 17275750 | 2007 | |||||||
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|
0.800 | GeneticVariation | UNIPROT | ||||||||||
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|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. | 11805270 | 2002 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Molecular and muscle pathology in a series of caveolinopathy patients. | 15580566 | 2005 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. | 12839838 | 2003 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Rippling is not always electrically silent in rippling muscle disease. | 21404291 | 2011 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. | 11756609 | 2001 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. | 12939441 | 2003 | ||||||
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|
0.800 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.800 | CausalMutation | CLINVAR | Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. | 11431690 | 2001 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Phenotypic variability associated with Arg26Gln mutation in caveolin3. | 15318349 | 2004 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. | 19380584 | 2009 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | Caveolin-3 gene mutation in Japanese with rippling muscle disease. | 12807393 | 2003 |