Gene: LMNA ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633 2017
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 CausalMutation group CLINVAR Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE. 16715312 2006
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 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
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 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 The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope. 29943882 2018
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 Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy. 16537768 2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia. 17987279 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del. 27585670 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. 11138304 2000
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 Biomarker group HPO
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
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 CausalMutation group CLINVAR Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 15372542 2004
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 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 Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350 2013
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 Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. 10662742 2000