MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Long QT Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.120 GeneticVariation disease BEFREE Finally, in patient 4 with LQTS a known missense variant was found in MYBPC3, which is usually mutated in patients with cardiomyopathy. 23590259 2014
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.120 Biomarker disease BEFREE Large overlapping cDNA fragments from KCNQ1 and KCNH2 (Long QT Syndrome), MYBPC3 (hypertrophic and dilated cardiomyopathy), or FBN1 (Marfan Syndrome) were amplified from RNA and directly sequenced. 17224687 2007
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.120 CausalMutation disease CLINVAR