DisGeNET - a database of gene-disease associations

Cardiomyopathy, Hypertrophic, Familial, C0949658

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

0.700

CausalMutation

CLINVAR

Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

25031304

2014

dbSNP:

rs397516074

MYBPC3

0.700

CausalMutation

CLINVAR

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

23233322

2013

dbSNP:

rs397516074

MYBPC3

0.700

CausalMutation

CLINVAR

E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.

23980194

2013

dbSNP:

rs397516074

MYBPC3

0.700

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

dbSNP:

rs397516074

MYBPC3

0.700

CausalMutation

CLINVAR

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

19574547

2009

dbSNP:

rs397516074

MYBPC3

0.700

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

0.700

CausalMutation

CLINVAR

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

20031602

2009

dbSNP:

rs397516074

MYBPC3

0.700

CausalMutation

CLINVAR

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

18533079

2008

dbSNP:

rs397516074

MYBPC3

0.700

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

0.700

CausalMutation

CLINVAR

Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

15563892

2005

dbSNP:

rs397516074

MYBPC3

0.700

CausalMutation

CLINVAR

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

15769446

2005

dbSNP:

rs397516074

MYBPC3

0.700

CausalMutation

CLINVAR

Cardiac myosin binding protein C: its role in physiology and disease.

15166115

2004

dbSNP:

rs397516074

MYBPC3

0.700

CausalMutation

CLINVAR

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

15519027

2004

dbSNP:

rs397516074

MYBPC3

0.700

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

0.700

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

0.700

CausalMutation

CLINVAR

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

12707239

2003

dbSNP:

rs397516074

MYBPC3

0.700

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

0.700

CausalMutation

CLINVAR

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

9562578

1998

dbSNP: