Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy. 30550750

2019

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 Biomarker BEFREE Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy. 30456444

2019

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay. 30586709

2019

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography study. 30668650

2019

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 Biomarker BEFREE Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy. 30645170

2019

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 Biomarker BEFREE Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy. 31730716

2019

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat. 31164718

2019

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE Different Clinical Presentation and Tissue Characterization in a Monozygotic Twin Pair with MYH7 Mutation-Related Hypertrophic Cardiomyopathy. 30745532

2019

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance. 31503054

2019

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE CMR derived left ventricular septal convexity in carriers of the hypertrophic cardiomyopathy-causing MYBPC3-Q1061X mutation. 30976029

2019

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE Next-generation sequencing (NGS) as a molecular diagnostic tool for hypertrophic cardiomyopathy in a Chinese boy due to novel compound heterozygous mutations in the MYBPC3 gene: A case report. 30896616

2019

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE SarcTrack analysis of hiPSC-CMs carrying a heterozygous truncation variant in the myosin-binding protein C ( MYBPC3) gene, which causes hypertrophic cardiomyopathy, recapitulated seminal disease phenotypes including cardiac hypercontractility and diminished relaxation, abnormalities that normalized with MYK-461 treatment. 30700234

2019

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE MYH7 Gene-Related Mutation p.V878L Identified in a Chinese Family with Hypertrophic Cardiomyopathy. 31735781

2019

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE The results of our study assumed that exon 23 of MYH7 gene can be in potential affinity to hypertrophic cardiomyopathy in our cohort of patients. 28815794

2018

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy. 29663722

2018

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Hypertrophic obstructive cardiomyopathy
0.400 Biomarker BEFREE Incident Atrial Fibrillation Is Associated With MYH7 Sarcomeric Gene Variation in Hypertrophic Cardiomyopathy. 30354366

2018

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 Biomarker BEFREE These genes were classified as contraction defects (e.g., Myl2, Myh6, Mybpc3, and Actb), impaired intracellular Ca<sup>2+</sup> homeostasis (e.g., SERCA2a, Ryr2, Rcan1, and CaMKII delta), and signaling molecules for hypertrophic cardiomyopathy (e.g., Itga/b, IGF-1, Tgfb2/3, and Prkaa1/2). microRNA sequencing revealed that 15 microRNAs were differentially expressed (2-fold, P < 0.05). 30029588

2018

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation. 29343710

2018

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE Variable cardiac myosin binding protein-C expression in the myofilaments due to MYBPC3 mutations in hypertrophic cardiomyopathy. 30170119

2018

Entrez Id: 9997
Gene Symbol: SCO2
SCO2
Hypertrophic obstructive cardiomyopathy
0.400 Biomarker BEFREE Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes. 29193756

2018

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction. 30446606

2018

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation. 30316040

2018

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Hypertrophic obstructive cardiomyopathy
0.400 GeneticVariation BEFREE The Cumulative Effects of the MYH7-V878A and CACNA1C-A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy. 28866666

2018

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Hypertrophic obstructive cardiomyopathy
0.400 Biomarker CTD_human Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy. 29686627

2018

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Hypertrophic obstructive cardiomyopathy
0.400 Biomarker CTD_human CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy. 29741611

2018