Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512 2012
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene. 19167105 2010
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 20160190 2010
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies. 18606848 2008
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. 16061563 2005
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy. 15140538 2004
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. 15219508 2004
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 15372542 2004
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 12628721 2003
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700 2003
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. 14675861 2003
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 12920062 2003
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. 11897440 2002
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation. 12486434 2002
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809 2001
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226 2001
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 GeneticVariation UNIPROT Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 10580070 1999