DisGeNET - a database of gene-disease associations

Hypertrophic Cardiomyopathy, C0007194

Variant: rs397516074 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

9562578

1998

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

12974739

2003

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

12707239

2003

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

14563344

2003

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

"Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."

12951062

2003

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.

15114369

2004

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

15519027

2004

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

15563892

2005

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants.

15769446

2005

dbSNP:

rs397516074

MYBPC3

0.720

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

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Contribution of inherited heart disease to sudden cardiac death in childhood.

17908752

2007

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy.

18374358

2008

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

18533079

2008

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

18957093

2008

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice.

19590044

2009

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

19808356

2009

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

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

20031602

2009

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.

19574547

2009

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

20359594

2010

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression.

20173211

2010

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

[Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].

20414521

2010

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies.

20159828

2010

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy.

22563033

2012

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.

22907696

2012

dbSNP:

rs397516074

MYBPC3

0.720

CausalMutation

CLINVAR

Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

22267749

2012