MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Arrhythmogenic Right Ventricular Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.030 GeneticVariation disease BEFREE Notably, all variants in OBSCN and MYBPC3 were found, making these unlikely to be monogenic causes of ARVC. 31402444 2019
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.030 GeneticVariation disease BEFREE Molecular studies revealed a variant of unknown significance in the MYBPC3 gene, but no variant known to be associated with ARVC. 28843747 2017
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.030 GeneticVariation disease BEFREE Likely pathogenic variants were found in three ARVC cases (12%) in PKP2, DSC2 or DSP, two DCM cases (20%) in MYH7, and four HCM cases (27%) in MYBPC3 (3) or MYH7 (1). 27000522 2017