Gene: LMNA ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation disease CLINVAR New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy. 27717888 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 GeneticVariation disease CLINVAR Congenital fiber type disproportion myopathy caused by LMNA mutations. 24642510 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation disease CLINVAR Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 22883396 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation disease CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 GeneticVariation disease CLINVAR Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. 23427149 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation disease CLINVAR Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 GeneticVariation disease CLINVAR Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement. 21173262 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation disease CLINVAR Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 20848652 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 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 		0.800 CausalMutation disease CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 GeneticVariation disease CLINVAR Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10. 20498703 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation disease CLINVAR "Two children with ""dropped head"" syndrome due to lamin A/C mutations." 20886652 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation disease CLINVAR Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. 19524666 2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation disease CLINVAR De novo LMNA mutations cause a new form of congenital muscular dystrophy. 18551513 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation disease CLINVAR Laminopathies in Russian families. 18564364 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 GeneticVariation disease CLINVAR Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 17377071 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 GeneticVariation disease CLINVAR Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. 16772334 2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation disease CLINVAR Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. 15744034 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation 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 		0.800 GeneticVariation disease CLINVAR Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. 14659775 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation disease CLINVAR Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. 12649505 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 CausalMutation 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 		0.800 CausalMutation disease CLINVAR The R249Q mutation is located within the central rod domain of the LMNA gene, and has been described in at least five unrelated sporadic EDMD2 patients. 12032588 2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 GeneticVariation disease CLINVAR Structure of the globular tail of nuclear lamin. 11901143 2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.800 GeneticVariation disease CLINVAR Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809 2001