Source: CLINVAR

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 GeneticVariation CLINVAR An alternative splicing product of the lamin A/C gene lacks exon 10. 8621584

1996
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 CausalMutation CLINVAR Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 10580070

1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 CausalMutation CLINVAR Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 10080180

1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 GeneticVariation 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
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 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 GeneticVariation CLINVAR Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 10814726

2000
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 GeneticVariation 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 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 GeneticVariation 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 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 GeneticVariation CLINVAR Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 11503164

2001
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 GeneticVariation 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 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 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809

2001
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 GeneticVariation CLINVAR Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. 12032588

2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 GeneticVariation CLINVAR We investigated the prevalence of lamin A/C (LMNA) gene defects in familial and sporadic dilated cardiomyopathies (DCM) associated with atrioventricular block (AVB) or increased serum creatine-phosphokinase (sCPK), and the corresponding changes in myocardial and protein expression. 11897440

2002
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 Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 12920062

2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 CausalMutation CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972

2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 CausalMutation 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
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 [A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. 16266469

2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 GeneticVariation CLINVAR Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1. 16156025

2005