MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: LEFT VENTRICULAR NONCOMPACTION 10 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 CausalMutation disease CLINVAR New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 23299917 2013
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 CausalMutation disease CLINVAR How do MYBPC3 mutations cause hypertrophic cardiomyopathy? 22057632 2012
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 GeneticVariation disease UNIPROT Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322 2011
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 GeneticVariation disease UNIPROT Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. 20215591 2010
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 CausalMutation disease CLINVAR Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. 20433692 2010
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 CausalMutation disease CLINVAR Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. 9048664 1997
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 Biomarker disease CTD_human
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 GeneticVariation disease CLINVAR