Gene: LMNA ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope. 29943882 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. 29382405 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group 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 		0.500 CausalMutation group CLINVAR Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del. 27585670 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. 28790152 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers. 29237675 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations. 29149195 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy. 27886618 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. 28798025 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. 27723096 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. 27884249 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification. 26383716 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group 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 		0.500 CausalMutation group CLINVAR Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies. 24375749 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Lamin A/C mutations in dilated cardiomyopathy. 24846508 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects. 24058181 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 GeneticVariation group 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 		0.500 GeneticVariation group 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 		0.500 GeneticVariation group CLINVAR Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations. 23977161 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.500 CausalMutation group CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350 2013