Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062

2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR "Prevalence and severity of ""benign"" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy." 12473556

2002
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR "Sudden cardiac death in familial hypertrophic cardiomyopathy: are ""benign"" mutations really benign?" 9271024

1997
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations. 24829265

2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645

2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 GeneticVariation BEFREE 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
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188

2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 GeneticVariation CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188

2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION. 26446785

2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation. 20394946

2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. 9544842

1998
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death. 23140321

2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700

2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. 1975517

1990
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. 16858239

2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 GeneticVariation CLINVAR A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. 16858239

2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A mouse model of familial hypertrophic cardiomyopathy. 8614836

1996
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype. 19913502

2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. 7796500

1995
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 GeneticVariation CLINVAR A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. 7796500

1995
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation 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
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation 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
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation 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
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation CLINVAR A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. 21279644

2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.500 CausalMutation 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