DisGeNET - a database of gene-disease associations

Hypertrophic Cardiomyopathy, C0007194

Variant: rs121913632 ×

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:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

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

12707239

2003

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

8483915

1993

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

7883988

1995

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

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

24093860

2013

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

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

7731997

1995

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

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

7731997

1995

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy.

28246639

2017

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

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

15856146

2005

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

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

7731997

1995

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

19808356

2009

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

Isometric tension and mutant myosin heavy chain content in single skeletal myofibers from hypertrophic cardiomyopathy patients.

9140824

1997

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

15563892

2005

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

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

15358028

2004

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

15563892

2005

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.

23074333

2012

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling.

21216834

2011

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.

24865491

2014

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

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

27532257

2017

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

25935763

2015

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

20800588

2010

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

8483915

1993

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

7883988

1995

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

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

15358028

2004

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

N232S, G741R and D778G beta-cardiac myosin mutants, implicated in familial hypertrophic cardiomyopathy, do not disrupt myofibrillar organisation in cultured myotubes.

11196015

2000

dbSNP:

rs121913632

MYH7

0.700

GeneticVariation

CLINVAR

Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.

8533830

1995