DisGeNET - a database of gene-disease associations

Hypertrophic Cardiomyopathy, C0007194

Variant: rs121913625 ×

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:

rs121913625

MYH7

0.720

GeneticVariation

BEFREE

CRISPR/Cas9 editing produced 11 variants of the HCM-causing mutation c.C9123T-MYH7 [(p.R453C-β-myosin heavy chain (MHC)] in 3 independent hPSC lines.

29741611

2018

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

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

27532257

2017

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

The hypertrophic cardiomyopathy myosin mutation R453C alters ATP binding and hydrolysis of human cardiac β-myosin.

24344137

2014

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

23283745

2013

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

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

23349452

2013

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function.

23798412

2013

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Conduction abnormalities in pediatric patients with restrictive cardiomyopathy.

22260945

2012

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.

17351073

2007

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome.

17495353

2007

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.

17599605

2007

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.

16715312

2006

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

15858117

2005

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

15856146

2005

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium.

15001446

2004

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

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

15358028

2004

dbSNP:

rs121913625

MYH7

0.720

GeneticVariation

BEFREE

MYH7 R453C was present in a woman with mild HC, mother of a son who died from SCD.

12881443

2003

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

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

12707239

2003

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

12975413

2003

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

MYH7 R453C was present in a woman with mild HC, mother of a son who died from SCD.

12881443

2003

dbSNP:

rs121913625

MYH7

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:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.

12084606

2002

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.

11133230

2001

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

First description of germline mosaicism in familial hypertrophic cardiomyopathy.

10662815

2000

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.

8655135

1996

dbSNP:

rs121913625

MYH7

0.720

CausalMutation

CLINVAR

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

7731997

1995