DisGeNET - a database of gene-disease associations

Cardiomyopathy, Hypertrophic, Familial, C0949658

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

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

27532257

2017

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.

26914223

2016

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

Genetics of hypertrophic cardiomyopathy in Norway.

24111713

2014

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Genetics of hypertrophic cardiomyopathy in Norway.

24111713

2014

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.

24704860

2014

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

Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.

24704860

2014

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

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

24093860

2013

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

22112859

2012

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

22112859

2012

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

CausalMutation

CLINVAR

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

20031618

2009

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

20031618

2009

dbSNP:

rs121913632

MYH7

0.700

CausalMutation

CLINVAR

Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

15563892

2005

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

CausalMutation

CLINVAR

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

15856146

2005

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

CausalMutation

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

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

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

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

CausalMutation

CLINVAR

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

12707239

2003