Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Danon disease: focusing on heart. | 22695892 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Genetic basis of end-stage hypertrophic cardiomyopathy. | 21896538 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review. | 20445193 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. | 19318653 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Danon disease: further clinical and molecular heterogeneity. | 19373884 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Danon disease: an unusual presentation of autism. | 18555174 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation. | 16217705 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Glycogen storage diseases presenting as hypertrophic cardiomyopathy. | 15673802 | 2005 |
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|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CAT | 0.700 | GeneticVariation | CLINVAR |