DisGeNET - a database of gene-disease associations

Hypertrophic Cardiomyopathy, C0007194

Variant: rs397515905 ×

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:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

27532257

2017

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

27483260

2016

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.

25740977

2015

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Genetics of hypertrophic cardiomyopathy in Norway.

24111713

2014

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Left ventricular noncompaction: a distinct cardiomyopathy or a trait shared by different cardiac diseases?

25443708

2014

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

23396983

2013

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

22765922

2012

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population.

22857948

2012

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

22765922

2012

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

21415409

2011

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

20624503

2011

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

21415409

2011

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening.

20019025

2010

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.

20433692

2010

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.

20433692

2010

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Hypertrophic cardiomyopathy and athlete's heart: a tale of two entities.

18713777

2009

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].

19150014

2009

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.

19659763

2009

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].

19150014

2009

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Hypertrophic cardiomyopathy and athlete's heart: a tale of two entities.

18713777

2009

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Shared genetic causes of cardiac hypertrophy in children and adults.

18403758

2008

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.

11499718

2001

dbSNP:

rs397515905

MYBPC3

0.700

GeneticVariation

CLINVAR

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

9562578

1998