Gene: LMNA ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. 28790152 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation. 18926329 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation. 18926329 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. 18816602 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR A novel mutation in a large French-Canadian family with LGMD1B. 18714801 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. 19328042 2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Abstracts from the 11th Annual Meeting of the ECCR (European Council for Cardiovascular Research), Nice, France, 29 September-1 October 2006. 16990647 2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations. 29149195 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR An alternative splicing product of the lamin A/C gene lacks exon 10. 8621584 1996
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. 14675861 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. 21315846 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene. 10908904 2000
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation. 18031519 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Cardioembolic stroke related to limb-girdle muscular dystrophy 1B. 23360689 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 10939567 2000
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block. 20497714 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. 20576434 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene. 19167105 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation. 23142632 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. 24915601 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 12920062 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 12920062 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. 15972724 2005