Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.720 | CausalMutation | CLINVAR | LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. | 21151901 | 2010 |
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A | 0.720 | CausalMutation | CLINVAR | Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block. | 20497714 | 2010 |
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0.720 | GeneticVariation | BEFREE | Heart tissue specific transgenic mice of human LMNA E82K, a mutation causing dilated cardiomyopathy, were generated. | 21151901 | 2010 |
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A | 0.720 | CausalMutation | CLINVAR | Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. | 20155465 | 2010 |
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A | 0.720 | CausalMutation | CLINVAR | [Effects of a novel familial dilated cardiomyopathy associated LMNA gene mutation E82K on cell cycle of HEK293 cells]. | 17386158 | 2007 |
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A | 0.720 | CausalMutation | CLINVAR | Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect. | 16630578 | 2006 |
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0.720 | GeneticVariation | BEFREE | We screened genetic mutations in a large Chinese family of 50 members including members with dilated cardiomyopathy and found a Glu82Lys substitution mutation in the rod domain of the lamin A/C protein in eight family members, three of them have been diagnosed as dilated cardiomyopathy, one presented with heart dilation. | 16630578 | 2006 |
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A | 0.720 | CausalMutation | CLINVAR | [A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. | 16266469 | 2005 |