Gene: LMNA ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 GeneticVariation disease CLINVAR Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. 16218190 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 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 		0.100 GeneticVariation disease 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 		0.100 GeneticVariation disease CLINVAR Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation. 29095976 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 GeneticVariation disease CLINVAR Laminopathies in Russian families. 18564364 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 GeneticVariation disease CLINVAR In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. 16061563 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 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 		0.100 GeneticVariation disease 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 		0.100 GeneticVariation disease CLINVAR Long-term outcome and risk stratification in dilated cardiolaminopathies. 18926329 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 GeneticVariation disease CLINVAR Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 GeneticVariation disease CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 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 		0.100 GeneticVariation disease CLINVAR Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy. 29367541 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 GeneticVariation disease CLINVAR Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. 12015247 2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 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 		0.100 GeneticVariation disease CLINVAR New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. 17711925 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case. 25886484 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. 24915601 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutations. 20627339 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Structural alterations of Lamin A protein in dilated cardiomyopathy. 23701190 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties. 22893709 2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. 12467752 2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. 26084686 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects. 18396274 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement. 22071332 2012