Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.700 | CausalMutation | CLINVAR | Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. | 26656454 | 2015 |
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A | 0.700 | CausalMutation | CLINVAR | A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). | 24992688 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. | 23539503 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. | 24367593 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. | 21846512 | 2012 |
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A | 0.700 | CausalMutation | CLINVAR | Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies. | 18349139 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | The changes of the cardiac structure and function in cTnTR141W transgenic mice. | 18606313 | 2008 |
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A | 0.700 | CausalMutation | CLINVAR | Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. | 15769782 | 2005 |
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A | 0.700 | CausalMutation | CLINVAR | Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. | 14654368 | 2003 |
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A | 0.700 | CausalMutation | CLINVAR | Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. | 11684629 | 2001 |