Gene: MYBPC3 ×
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 CausalMutation disease CLINVAR Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants. 15769446 2005
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304 2014
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease MGD Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice. 15249187 2004
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 GeneticVariation disease UNIPROT Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. 28265379 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. 19273718 2009
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease 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 		0.900 GeneticVariation disease CLINVAR Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. 25335496 2015
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 19808356 2009
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758 2008
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease 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 		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 profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene. 16566405 2005
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
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 GeneticVariation disease CLINVAR Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients. 12881443 2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188 2008
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years. 17560888 2007
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017