rs386134243, LMNA

N. diseases: 16
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 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 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
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
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 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
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
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
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
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 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
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.700 CausalMutation CLINVAR
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
0.700 CausalMutation CLINVAR
Progeria
CUI: C0033300
Disease: Progeria
0.700 CausalMutation CLINVAR
Left ventricular noncompaction
CUI: C1960469
Disease: Left ventricular noncompaction
0.700 CausalMutation CLINVAR
Charcot-Marie-Tooth disease, Type 2B1
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
0.700 CausalMutation CLINVAR
Mandibuloacral dysostosis
CUI: C0432291
Disease: Mandibuloacral dysostosis
0.700 CausalMutation CLINVAR
Lethal tight skin contracture syndrome (disorder)
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
0.700 CausalMutation CLINVAR
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 CausalMutation CLINVAR
Emery-Dreifuss Muscular Dystrophy 3
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
0.700 CausalMutation CLINVAR
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
CUI: C1834653
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
0.700 CausalMutation CLINVAR