Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR Structural alterations of Lamin A protein in dilated cardiomyopathy. 23701190

2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 GeneticVariation CLINVAR Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. 16218190

2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 GeneticVariation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. 26084686

2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 GeneticVariation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement. 22071332

2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546

2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 17377071

2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. 21151901

2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR [Urinary incontinence in women is treated differently depending on the type]. 2280636

1990
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy. 26034236

2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation 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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation. 18604166

2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. 19875404

2009