rs267607578, LMNA

N. diseases: 3
Source: ALL
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
0.810 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
0.810 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
0.810 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
0.810 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
0.810 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
0.810 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
0.810 GeneticVariation CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565 2007
Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565 2007
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565 2007
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.810 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
0.810 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
0.810 GeneticVariation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350 2013
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.810 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
0.810 GeneticVariation CLINVAR Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 18585512 2008
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 18585512 2008
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.810 GeneticVariation CLINVAR Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies. 24375749 2014
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.810 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
Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy. 22177269 2012
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy. 22177269 2012
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.810 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
0.810 GeneticVariation CLINVAR Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 20160190 2010
Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 20160190 2010
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR 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
0.810 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
0.810 GeneticVariation UNIPROT Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 12628721 2003