rs397515990, MYBPC3

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene. 24602869 2014
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322 2011
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history. 22115648 2011
Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history. 22115648 2011
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation CLINVAR Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history. 22115648 2011
Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322 2011
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. 20505798 2010
Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. 20505798 2010
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation CLINVAR Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. 20505798 2010
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. 20433692 2010
Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. 20433692 2010
Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. 19273718 2009
Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. 19574547 2009
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. 19273718 2009
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. 19574547 2009
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578 1998
Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578 1998
Familial Hypertrophic Cardiomyopathy Type 4
0.700 CausalMutation CLINVAR
LEFT VENTRICULAR NONCOMPACTION 10
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
0.700 CausalMutation CLINVAR