rs386134243, LMNA

N. diseases: 16
Disease: Cardiomyopathy, Dilated ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations. 29149195 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. 27723096 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del. 27585670 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers. 29237675 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Lamin A/C mutations in dilated cardiomyopathy. 24846508 2014
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504 2013
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350 2013
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770 2012
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy. 22224630 2012
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies. 22266370 2012
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR