Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633

2017

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. 21315846

2011

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504

2013

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. 10662742

2000

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. 29382405

2018

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. 11792810

2001

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Lamin AC mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans. 17334235

2007

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia. 19638735

2009

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect. 16630578

2006

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 18035086

2007

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226

2001

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 17377071

2007