Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy. 23840593 2013
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy. 18929575 2008
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. 18957093 2008
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542 2005
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027 2004
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency. 15114369 2004
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062 2003
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. 12628722 2003
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575 2003
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 11815426 2002
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. 11499718 2001
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. 11499719 2001
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. 9541104 1998
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy. 9541115 1998
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. 9048664 1997
Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation UNIPROT Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? 7744002 1995