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: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.150 GeneticVariation disease BEFREE We studied 140 carriers (G+) of the TPM1-Asp175Asn or MYBPC3-Gln1061X pathogenic variants for HCM: The G+/LVH+ group (n = 98) consisted of mutation carriers with LVH and the G+/LVH- group (n = 42) without LVH. 30497761 2019
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.150 GeneticVariation disease BEFREE Subjects with the MYBPC3-Q10961X mutation have increased septal convexity irrespective of the presence of LVH. 30976029 2019
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.150 CausalMutation disease CLINVAR Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. 27435932 2016
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.150 GeneticVariation disease BEFREE Concentrations of branched chain amino acids, triglycerides and ether phospholipids were increased in mutation carriers with hypertrophy as compared to controls and non-hypertrophic mutation carriers, and correlated with echocardiographic LVH and signs of diastolic and systolic dysfunction in subjects with the MYBPC3-Q1061X mutation. 26267065 2015
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.150 GeneticVariation disease BEFREE The identified mutations in MYBPC3 in the G+/LVH+ subjects were c.2864_2865delCT (12 subjects), c.2373dupG (n = 8), and p. Arg943X (n = 7). 19356534 2009
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.150 GeneticVariation disease LHGDN Late-onset primary LVH HCM versus cardiac fabry variant. 11955864 2002