| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | A new missense mutation in caveolin-3 gene causes rippling muscle disease. | 16458928 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. | 15668980 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular and muscle pathology in a series of caveolinopathy patients. | 15580566 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Two novel CAV3 gene mutations in Japanese families. | 15564037 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | 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 | Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. | 12666119 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Consequences of a novel caveolin-3 mutation in a large German family. | 12557291 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. | 11532985 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. | 11756609 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. | 11431690 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. | 11001938 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. | 9537420 | 1998 |
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|
T | 0.800 | CausalMutation | CLINVAR |