| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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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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0.700 | GeneticVariation | UNIPROT | Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. | 9537420 | 1998 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. | 10746614 | 2000 | ||||||
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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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A | 0.700 | CausalMutation | CLINVAR | Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. | 10746614 | 2000 | ||||||
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0.700 | GeneticVariation | UNIPROT | Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. | 11001938 | 2000 | |||||||
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0.010 | GeneticVariation | BEFREE | Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. | 11001938 | 2000 | |||||||
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0.010 | GeneticVariation | BEFREE | Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. | 11001938 | 2000 | |||||||
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0.010 | GeneticVariation | BEFREE | Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. | 11001938 | 2000 | |||||||
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0.010 | GeneticVariation | BEFREE | Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. | 11001938 | 2000 | |||||||
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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 | Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. | 11431690 | 2001 | ||||||
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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 |