DisGeNET - a database of gene-disease associations

Hypertrophic Cardiomyopathy, C0007194

Variant: rs2754158 ×

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:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

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

27532257

2017

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

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

27532257

2017

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.

28498465

2017

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

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

27247418

2016

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

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

27247418

2016

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.

25086479

2015

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

26187847

2015

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

A Variant Detection Pipeline for Inherited Cardiomyopathy-Associated Genes Using Next-Generation Sequencing.

25937619

2015

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

24793961

2014

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy.

25228707

2014

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Genetics of hypertrophic cardiomyopathy in Norway.

24111713

2014

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.

23690394

2013

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

24093860

2013

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.

22958901

2012

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients.

20975235

2010

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Impact of QT variables on clinical outcome of genotyped hypertrophic cardiomyopathy.

19149795

2009

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

[Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene].

16938236

2006

dbSNP:

rs2754158

MYH7

0.700

GeneticVariation

CLINVAR

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

15358028

2004