Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014

2009
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families. 23054336

2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. 21302287

2011
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation CLINVAR Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. 21302287

2011
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 Biomarker GENOMICS_ENGLAND Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. 19858127

2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. 19858127

2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy. 18929575

2008
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 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
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies. 20159828

2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation CLINVAR The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. 20530761

2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. 14563344

2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation UNIPROT The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. 14563344

2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation UNIPROT Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. 11499719

2001
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. 11499719

2001
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. 23782526

2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation CLINVAR Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. 20378854

2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. 20378854

2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation UNIPROT Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Severe cardiac conduction disturbances and pacemaker implantation in patients with hypertrophic cardiomyopathy. 20738943

2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing. 26090888

2015