Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease CTD_human
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation disease CLINVAR
Entrez Id: 653361
Gene Symbol: NCF1
NCF1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Local mechanical oscillations of the cell surface within the range 0.2-30 Hz. 2073894 1990
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease CLINGEN Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. 7493025 1995
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. 7493026 1995
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? 7744002 1995
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure. 8655135 1996
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR 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
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR 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
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease 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
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease CLINGEN Cardiac myosin binding protein C gene is specifically expressed in heart during murine and human development. 9440712 1998
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. 9541104 1998
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy. 9541115 1998
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578 1998
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578 1998
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease CLINGEN Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578 1998
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578 1998
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. 9631872 1998
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. 10424815 1999
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease MGD Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. 10545522 1999
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes. 10610770 1999
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes. 10610770 1999
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease CLINGEN Comparison of two murine models of familial hypertrophic cardiomyopathy. 11230104 2001
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. 11499718 2001