Gene: MYH7 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A mouse model of familial hypertrophic cardiomyopathy. 8614836 1996
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. 7796500 1995
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy. 24888384 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy. 24888384 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. 7848441 1994
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. 27483260 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE A novel p.G407C mutation in the β-MHC gene (MYH7) was identified to be responsible for familial HCM in this family. 24963656 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy. 20350521 2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN A novel de novo mutation of β-cardiac myosin heavy chain gene found in a twelve-year-old boy with hypertrophic cardiomyopathy. 25189259 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 19645038 2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family. 17703256 2007
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR A systematic approach to the reporting of medically relevant findings from whole genome sequencing. 25714468 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR A Variant Detection Pipeline for Inherited Cardiomyopathy-Associated Genes Using Next-Generation Sequencing. 25937619 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. 19880069 2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. 24704860 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 7883988 1995
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 7883988 1995
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE About 130 consecutive patients diagnosed with HCM or DCM (69 with HCM and 61 with DCM) attending the cardiology clinic of Post Graduate Institute of Medical Education and Research were screened for mutations in the MYH7 gene. 18953637 2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Advances in molecular genetics and management of hypertrophic cardiomyopathy. 10328076 1999