Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mechanistic basis of desmosome-targeted diseases. | 23911551 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. | 23671136 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. | 15489853 | 2004 |