Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy. 27717888

2017

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2016

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. 26467025

2016

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. 26467025

2016

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation BEFREE Here we have focused on autosomal dominant Emery-Dreifuss Muscular Dystrophy, one such laminopathy where R453W is the causative mutation located in the Ig domain of lamin A. 25343322

2015

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 Biomarker BEFREE Frameshift mutations were detected in 17 (45%) LGMD1B compared to 3 (18%) EDMD2, 1 (6%) MDCL, and 2 (33%) with atypical myopathy (p = 0.021). 25274841

2015

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 22883396

2014

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR Congenital fiber type disproportion myopathy caused by LMNA mutations. 24642510

2014

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation 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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation 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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation UNIPROT Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 22431096

2012

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249

2012

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation 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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation BEFREE Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in LMNA gene encoding lamins A and C. The disease is characterized by early onset joint contractures during childhood associated with humero-peroneal muscular wasting and weakness, and by the development of a cardiac disease in adulthood. 21063730

2011

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation 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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2011

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393

2011

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation BEFREE They are caused by mutations in collagen VI (ColVI) genes (COL6A1, COL6A2, and COL6A3) while LMNA mutations cause autosomal dominant Emery-Dreifuss muscular dystrophy. 20576434

2010

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation 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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Two children with "dropped head" syndrome due to lamin A/C mutations. 20886652

2010

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. 19524666

2009