Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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C | 0.700 | GeneticVariation | CLINVAR | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||
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0.060 | GeneticVariation | BEFREE | Conclusions IF and TFEB activation are clinically relevant therapeutic strategies to rescue advanced R120G αB-crystallin mutant-induced cardiomyopathy by normalizing desmin localization via autophagy-dependent and autophagy-independent mechanisms. | 30773991 | 2019 |
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0.060 | GeneticVariation | BEFREE | In a mouse model, cardiomyopathy caused by the dominant CryAB(R120G) missense mutation was suppressed by mutation of the gene that encodes glucose 6-phosphate dehydrogenase (G6PD), one of the cell's primary sources of reducing equivalents in the form of NADPH. | 23818860 | 2013 |
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0.060 | GeneticVariation | BEFREE | Sildenafil treatment significantly increased myocardial PKG activity and significantly reduced myocardial accumulation of CryAB(R120G), ubiquitin conjugates, and aberrant protein aggregates in mice with CryAB(R120G)-based desmin-related cardiomyopathy. | 23770744 | 2013 |
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0.060 | GeneticVariation | BEFREE | The autosomal dominant mutation in the human alphaB-crystallin gene inducing a R120G amino acid exchange causes a multisystem, protein aggregation disease including cardiomyopathy. | 17693254 | 2007 |
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0.060 | GeneticVariation | BEFREE | An R120G missense mutation in the small heat shock protein alpha-B-crystallin (CryAB) causes desmin-related cardiomyopathy. | 16316967 | 2005 |
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0.060 | GeneticVariation | BEFREE | The cardiomyopathy-causing alphaB-crystallin mutant R120G was found to be excessively phosphorylated, which disturbed SMN interaction and nuclear import, and resulted in the formation of cytoplasmic inclusions. | 16129694 | 2005 |
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0.010 | GeneticVariation | BEFREE | We report a novel CRYAB mutation, D109H, associated with posterior polar cataract, myofibrillar myopathy and cardiomyopathy in a two-generation family with five affected individuals. | 21920752 | 2012 |