LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Hereditary Motor and Sensory-Neuropathy Type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 GeneticVariation disease CLINVAR Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation. 29095976 2018
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope. 29943882 2018
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases. 29211919 2018
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Biomechanical defects and rescue of cardiomyocytes expressing pathologic nuclear lamins. 29432544 2018
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. 27723096 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. 27876398 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 28416588 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene. 29770364 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation. 28620495 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing. 28878402 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers. 29237675 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. 28641778 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 GeneticVariation disease CLINVAR Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy. 29367541 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. 27220833 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca2+ handling. 27421120 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Multicenter Experience With Catheter Ablation for Ventricular Tachycardia in Lamin A/C Cardiomyopathy. 27506821 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case. 25886484 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. 26084686 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy. 26034236 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation disease CLINVAR Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. 26098624 2015