DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathy, Hypertrophic, Familial ×

Gene: MYH7 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

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

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

Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

25448463

2014

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

10065021

1998

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

12818575

2003

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

A transgenic rabbit model for human hypertrophic cardiomyopathy.

10606622

1999

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.

12820698

2003

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy.

17097032

2006

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Genetics of hypertrophic cardiomyopathy in Norway.

24111713

2014

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].

17125710

2006

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

27247418

2016

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

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

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].

17125710

2006

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

20031619

2009

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

22112859

2012

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

21310275

2011

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Good Intentions Gone Bad.

31112422

2019

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β.

20811150

2010

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

23349452

2013

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.

20031602

2009

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy.

23751935

2013

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.

21835320

2011

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family.

9874056

1998

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

21302287

2011

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations.

24835277

2014

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication.

9062359

1997