DisGeNET - a database of gene-disease associations

Cardiomyopathy, Familial Hypertrophic, 1 (disorder), C3495498

Variant: rs121913641 ×

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:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

16199542

2005

dbSNP:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy.

18411228

2008

dbSNP:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

9829907

1998

dbSNP:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

20624503

2011

dbSNP:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

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

24093860

2013

dbSNP:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

18409188

2008

dbSNP:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family.

11498078

2001

dbSNP:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

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

12707239

2003

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

CLINVAR

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

25935763

2015

dbSNP:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

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

15358028

2004

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

CLINVAR

The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy.

18411228

2008

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

CLINVAR

A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family.

11498078

2001

dbSNP:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

Shared genetic causes of cardiac hypertrophy in children and adults.

18403758

2008

dbSNP:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

10521296

1999

dbSNP:

rs121913641

MYH7

0.800

CausalMutation

CLINVAR

A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

7848441

1994

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

CLINVAR

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

16199542

2005

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

UNIPROT

"Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."

12951062

2003

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

UNIPROT

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

25173338

2014

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

UNIPROT

Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy.

8899546

1996

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

UNIPROT

Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.

1638703

1992

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

UNIPROT

Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

10065021

1998

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

UNIPROT

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

12818575

2003

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

UNIPROT

Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

8268932

1993

dbSNP:

rs121913641

MYH7

0.800

GeneticVariation

UNIPROT

Gene mutations in apical hypertrophic cardiomyopathy.

16267253

2005

dbSNP: