rs267607554, LMNA

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca2+ handling. 27421120 2016
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects. 24058181 2014
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins. 24001739 2013
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy. 21840938 2011
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. 19875404 2009
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia. 17987279 2008
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia. 17987279 2008
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE. 16715312 2006
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
0.010 GeneticVariation BEFREE This study is focused on a LMNA nonsense mutation (R321X) identified in several members of an Italian family that produces a truncated protein isoform, which co-segregates with a severe form of cardiomyopathy with poor prognosis. 27421120 2016