DisGeNET - a database of gene-disease associations

Cardiomyopathy, Hypertrophic, Familial, C0949658

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

0.700

CausalMutation

CLINVAR

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

24344137

2014

dbSNP:

rs121913625

MYH7

0.700

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

0.700

CausalMutation

CLINVAR

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

23349452

2013

dbSNP:

rs121913625

MYH7

0.700

CausalMutation

CLINVAR

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

23798412

2013

dbSNP:

rs121913625

MYH7

0.700

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

0.700

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

0.700

CausalMutation

CLINVAR

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

15856146

2005

dbSNP:

rs121913625

MYH7

0.700

CausalMutation

CLINVAR

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

15358028

2004

dbSNP:

rs121913625

MYH7

0.700

CausalMutation

CLINVAR

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

15001446

2004

dbSNP:

rs121913625

MYH7

0.700

CausalMutation

CLINVAR

Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients.

12881443

2003

dbSNP:

rs121913625

MYH7

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:

rs121913625

MYH7

0.700

CausalMutation

CLINVAR

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

12975413

2003

dbSNP:

rs121913625

MYH7

0.700

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

0.700

CausalMutation

CLINVAR

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

11133230

2001

dbSNP:

rs121913625

MYH7

0.700

CausalMutation

CLINVAR

Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report.

20428263

2001

dbSNP:

rs121913625

MYH7

0.700

CausalMutation

CLINVAR

First description of germline mosaicism in familial hypertrophic cardiomyopathy.

10662815

2000

dbSNP:

rs121913625

MYH7

0.700

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

0.700

CausalMutation

CLINVAR

Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.

8250038

1993

dbSNP: