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 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: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.130 GeneticVariation CLINVAR Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 10594734

1999
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000
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: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.490 CausalMutation CLINVAR Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 CausalMutation CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012

2000
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 GeneticVariation CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539

2000
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 CausalMutation CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539

2000
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 GeneticVariation CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012

2000
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.200 GeneticVariation CLINVAR Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation. 11106625

2000
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.130 GeneticVariation CLINVAR Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. 11063735

2000
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.110 GeneticVariation CLINVAR Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. 10655062

2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 11684629

2001
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