MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
0.020 GeneticVariation disease BEFREE Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing. 26163040 2015
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
0.020 GeneticVariation disease LHGDN Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. 16651346 2006