Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 CausalMutation disease CLINVAR Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 27760138 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 GeneticVariation disease CLINVAR Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies. 24375749 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 GeneticVariation disease CLINVAR Systematic identification of pathological lamin A interactors. 24623722 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 GeneticVariation disease CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease CLINVAR Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy. 22177269 2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 GeneticVariation disease CLINVAR A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation. 21085127 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 CausalMutation disease CLINVAR Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene. 19167105 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 GeneticVariation disease CLINVAR Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 20160190 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 GeneticVariation disease CLINVAR Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 18585512 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 CausalMutation disease 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
1.000 GeneticVariation disease CLINVAR Laminopathies in Russian families. 18564364 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 GeneticVariation disease CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 GeneticVariation disease 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
1.000 GeneticVariation disease CLINVAR Our in vivo and in vitro results question the relationship of causality between LMNA mutations and the development of heart failure in some DCM patients and therefore, the reliability of genetic counselling. 16061563 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
1.000 GeneticVariation disease 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
1.000 CausalMutation disease 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
1.000 CausalMutation disease CLINVAR Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 10580070 1999