Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | GeneticVariation | CLINVAR | Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. | 23815709 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. | 22153487 | 2012 |
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T | 0.700 | GeneticVariation | CLINVAR | A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. | 20696008 | 2011 |
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T | 0.700 | GeneticVariation | CLINVAR | Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. | 19587455 | 2009 |
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T | 0.700 | GeneticVariation | CLINVAR | Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. | 19716701 | 2009 |
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T | 0.700 | GeneticVariation | CLINVAR | Desmin myopathy. | 14724127 | 2004 |
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T | 0.700 | GeneticVariation | CLINVAR | On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. | 12620971 | 2003 |
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T | 0.700 | GeneticVariation | CLINVAR | Desmin splice variants causing cardiac and skeletal myopathy. | 11073539 | 2000 |
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T | 0.700 | GeneticVariation | CLINVAR | Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. | 10717012 | 2000 |