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 Biomarker CTD_human

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation CLINVAR "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062

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 "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062

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 "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062

2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation CLINVAR A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. 22907696

2012
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. 22907696

2012
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188

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 A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. 25740977

2015
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. 16858239

2006
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation CLINVAR A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. 16858239

2006
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. 27483260

2016
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation CLINVAR A novel custom resequencing array for dilated cardiomyopathy. 20474083

2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 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
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

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 A systematic approach to assessing the clinical significance of genetic variants. 24033266

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 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213

2008
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213

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 Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 CausalMutation CLINVAR Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. 18957093

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 Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. 18957093

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 An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy. 25971843

2015
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 Biomarker CLINGEN Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice. 15249187

2004
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 Biomarker MGD Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice. 15249187

2004
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.900 GeneticVariation UNIPROT Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy. 23840593

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 Biomolecular interactions between human recombinant beta-MyHC and cMyBP-Cs implicated in familial hypertrophic cardiomyopathy. 14613868

2003