DisGeNET - a database of gene-disease associations

Cardiomyopathy, Familial Hypertrophic, 1 (disorder), C3495498

Variant: rs121913631 ×

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:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs121913631

MYH7

0.800

CausalMutation

CLINVAR

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

24510615

2014

dbSNP:

rs121913631

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:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs121913631

MYH7

0.800

CausalMutation

CLINVAR

Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.

21642240

2011

dbSNP:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

21267010

2011

dbSNP:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

21810866

2011

dbSNP:

rs121913631

MYH7

0.800

CausalMutation

CLINVAR

Shared genetic causes of cardiac hypertrophy in children and adults.

18403758

2008

dbSNP:

rs121913631

MYH7

0.800

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:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

Gene mutations in apical hypertrophic cardiomyopathy.

16267253

2005

dbSNP:

rs121913631

MYH7

0.800

CausalMutation

CLINVAR

Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations.

15528230

2005

dbSNP:

rs121913631

MYH7

0.800

CausalMutation

CLINVAR

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

15358028

2004

dbSNP:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

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

15358028

2004

dbSNP:

rs121913631

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:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

12974739

2003

dbSNP:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

12818575

2003

dbSNP:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.

12566107

2003

dbSNP:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines.

14607462

2003

dbSNP:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

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

12975413

2003

dbSNP:

rs121913631

MYH7

0.800

CausalMutation

CLINVAR

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

12975413

2003

dbSNP:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

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

12707239

2003

dbSNP:

rs121913631

MYH7

0.800

CausalMutation

CLINVAR

"Prevalence and severity of ""benign"" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy."

12473556

2002

dbSNP:

rs121913631

MYH7

0.800

GeneticVariation

UNIPROT

The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.

11733062

2001

dbSNP: