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 The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins. 24001739 2013
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 Cardioembolic stroke related to limb-girdle muscular dystrophy 1B. 23360689 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770 2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Novel c.367_369del LMNA mutation manifesting as severe arrhythmias, dilated cardiomyopathy, and myopathy. 22019351 2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies. 22266370 2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy. 22177269 2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy. 22224630 2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy. 23062543 2012
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 Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 20848652 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. 21483645 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy. 21840938 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy. 21689390 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy. 21840938 2011
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 GeneticVariation group CLINVAR Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 20160190 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. 19882644 2010
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 CausalMutation group CLINVAR Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. 20155465 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 LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. 21151901 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. 18795223 2009