Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE Recent clinical research has confirmed that EDMD is one of several overlapping skeletal muscle phenotypes that can result from mutations in EMD and LMNA with dilated cardiomyopathy as a common feature. 31460960

2019

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 Biomarker BEFREE Five cases were diagnosed with different forms of cardiomyopathies, and exome sequencing revealed the presence of already documented or novel mutations in known genes in three cases: LMNA for an Emery Dreifuss Muscular Dystrophy case, PKP2 for an arrhythmogenic right ventricle dysplasia case, and MYPN for a dilated cardiomyopathy case. 30764827

2019

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE The unstable EDMD Ig-domain disrupted the proper assembly of lamin A, resulting in abnormal paracrystal formation and decreased viscosity. 30853177

2019

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 Biomarker BEFREE The LMNA gene is associated to a huge broad of phenotypes, including congenital Emery-Dreifuss muscular dystrophy and late-onset LMNA-related muscular dystrophy. 31410651

2019

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE Several murine models for EDMD have been generated; however, emerin-null (Emd) mice do not show obvious skeletal and cardiac muscle phenotypes, and Lmna H222P/H222P mutant (H222P) mice show only a mild phenotype in skeletal muscle when they already have severe cardiomyopathy. 31430335

2019

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE Autosomal Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. 31220270

2019

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE In the 1990s, mutations in EMD and LMNA were linked to Emery-Dreifuss muscular dystrophy. 29549040

2018

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 Biomarker BEFREE LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), and LMNA-associated congenital muscular dystrophy (L-CMD). 29893365

2018

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin-interacting proteins. 29633897

2018

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE Among those, the Emery Dreifuss Muscular Dystrophy (EDMD) is of particular interest as, despite the several known mutations of Lamin A/C, the genotype-phenotype correlation still remains poorly understood; this suggests that the epigenetic background of patients might play an important role during the time course of the disease. 29619865

2018

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 Biomarker CTD_human 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 30055862

2018

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress. 28531892

2017

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). 28984111

2017

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE Here we used RNA sequencing to analyze the global changes in gene expression caused by the L535P EDMD lamin mutation in order to gain better understanding of disease mechanisms and the correlation between transcription and phenotype. 27673727

2017

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE We have investigated Samp1 (Spindle Associated Membrane Protein 1), a transmembrane nuclear envelope protein, which interacts with emerin and lamin A, both of which are linked to Emery-Dreifuss muscular dystrophy (EDMD). 29192166

2017

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE The nuclear envelope protein lamin A is encoded by thelamin A/C(LMNA) gene, which can contain missense mutations that cause Emery-Dreifuss muscular dystrophy (EDMD) (p.R453W). 27099177

2016

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 Biomarker BEFREE Serum levels of TIMP-1 were normal in autosomal AD-EDMD and increased in the majority of X-linked EDMD. 25563468

2015

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. 25886484

2015

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE The present study aimed to examine and analyze cardiac involvement in two Emery‑Dreifuss muscular dystrophy (EDMD) pedigrees caused by the c.1583 C→G mutation of the lamin A/C gene (LMNA). 26165385

2015

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE These "muscle-specific" isoforms are thought to form a complex with emerin and lamin A/C at the inner nuclear membrane and mutations in all three proteins cause Emery-Dreifuss muscular dystrophy and/or inherited dilated cardiomyopathy, disorders in which only skeletal muscle and/or heart are affected. 24718612

2014

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE The more common X-linked recessive form of EDMD is caused by mutations in either EMD (encoding emerin) or FHL1 (encoding four and a half LIM domains 1), while mutations in LMNA (encoding lamin A/C), SYNE1 (encoding nesprin-1) and SYNE2 (encoding nesprin-2) lead to autosomal dominant forms of the condition. 23456229

2013

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE Human LMNA gene mutations result in laminopathies that include Emery-Dreifuss muscular dystrophy (AD-EDMD) and Hutchinson-Gilford progeria, the premature aging syndrome (HGPS). 22541428

2012

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 Biomarker BEFREE Dominant inherited Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B are due to mutations in the LMNA gene encoding lamin A/C and present similar life-threatening cardiac disease, the early diagnosis of which lacks reliable biomarkers. 22071332

2012

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 Biomarker BEFREE Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy. 21922471

2011

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.700 GeneticVariation BEFREE We then express at low levels in otherwise wild-type worms a lamin carrying a point mutation, Y59C, which in humans is linked to an autosomal-dominant form of Emery-Dreifuss muscular dystrophy. 21962710

2011