MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy. 23840593 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. 21492761 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. 7493025 1995