LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Familial dilated cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE Pathogenic variations in the lamin gene (<i>LMNA</i>) cause familial dilated cardiomyopathy (DCM). 31495264 2019
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease CLINVAR Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics. 30765282 2019
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease CLINVAR Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature. 30402260 2018
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 Biomarker disease BEFREE Lamin A/C gene (LMNA)-related familial dilated cardiomyopathy (fDCM) is an aggressive heart disease that often leads to transplantation and sudden death. 30008018 2018
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE Lamin A/C (LMNA) mutations cause familial dilated cardiomyopathy (DCM) with frequent conduction blocks and arrhythmias. 29095976 2018
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy. 27235420 2016
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death. 25498755 2015
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE The LMNA gene, which encodes the nuclear envelope protein lamin A/C, is considered to be the most common autosomal disease gene associated with familial dilated cardiomyopathy. 23793583 2013
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE We identified an autosomal dominant non‐sense mutation (R225X) in exon 4 of the lamin A/C (LMNA) gene in a Chinese family spanning 3 generations with familial dilated cardiomyopathy (DCM). 23362510 2012
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 AlteredExpression disease BEFREE The results of two more recent studies identify two additional human disease-associated proteins that are sumoylated, amyloid precursor protein (APP), and lamin A. APP sumoylation modulates Aβ peptide levels, suggesting a potential role in Alzheimer's disease, and decreased lamin A sumoylation due to mutations near its SUMO site has been implicated in causing some forms of familial dilated cardiomyopathy. 21482412 2011
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE Mutations in the lamin A/C gene (LMNA) are established causes of familial dilated cardiomyopathy (DCM) with atrio-ventricular block although relatively little is known about genotype-phenotype correlations. 21085127 2011
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE Familial dilated cardiomyopathy with conduction system defects variably associated with skeletal muscle abnormalities is frequently caused by LMNA gene mutations. 21462202 2011
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 20160190 2010
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report. 20307303 2010
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block. 20497714 2010
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 Biomarker disease BEFREE Lamin A/C deficiency is probably the most common cause of familial dilated cardiomyopathy. 19384091 2009
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 Biomarker disease BEFREE These findings point to a function for sumoylation in modulating amyloid-beta peptide levels, indicating a potential role in Alzheimer's disease, and for decreased lamin A sumoylation as a causative factor in familial dilated cardiomyopathy. 19282183 2009
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 Biomarker disease BEFREE Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. 18795223 2009
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE We identified 18 protein-altering LMNA variants in 19 probands or 5.9% of all cases (7.5% of FDC; 3.6% of IDC). 18585512 2008
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE Sequencing of the LMNA exons revealed one missense mutation at C568T (Arg190Trp) in the alpha-helical rod domain of the LMNA gene co-segregating with FDC with conduction-system disease. 17334235 2007
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy. 15140538 2004
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. 15219508 2004
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE We used mutation detection to evaluate the lamin A/C gene in a 45 year-old woman with familial dilated cardiomyopathy and conduction system disease whose family has been well characterized for this phenotype 1. 12854972 2003
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 Biomarker disease BEFREE Knowledge of such correlations may help to further define the mechanisms of disease in LMNA-associated FDC and can assist in the monitoring of disease for at-risk family members. 12486434 2002
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.200 GeneticVariation disease BEFREE To date, 2 genes for X-linked familial dilated cardiomyopathy (dystrophin, G4.5) have been identified and 4 genes for the autosomal dominant form (actin, desmin, lamin A/C, delta-sarcoglycan) have been described. 11781950 2001