Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.710 | GeneticVariation | BEFREE | A mouse line with heterozygous transgenic expression of phospholamban carrying a substitution of cysteine for arginine 9 (TgPLN<sup>R9C</sup>) under the control of α-myosin heavy chain (αMHC) promoter features dilated cardiomyopathy, heart failure, and premature death. | 29325795 | 2018 |
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T | 0.710 | CausalMutation | CLINVAR | A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations. | 25928149 | 2015 |
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T | 0.710 | CausalMutation | CLINVAR | Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban. | 25593317 | 2015 |
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T | 0.710 | CausalMutation | CLINVAR | Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity. | 23308118 | 2013 |
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T | 0.710 | CausalMutation | CLINVAR | Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. | 22427649 | 2012 |
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T | 0.710 | CausalMutation | CLINVAR | Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. | 22707725 | 2012 |
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T | 0.710 | CausalMutation | CLINVAR | Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. | 21282613 | 2011 |
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T | 0.710 | CausalMutation | CLINVAR | Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition. | 19139388 | 2009 |
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T | 0.710 | CausalMutation | CLINVAR | Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses. | 18056057 | 2008 |
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T | 0.710 | CausalMutation | CLINVAR | Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. | 12610310 | 2003 |