DisGeNET - a database of gene-disease associations

Cardiomyopathy, Hypertrophic, Familial, C0949658

Variant: rs121913627 ×

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:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

Genetics of hypertrophic cardiomyopathy in Norway.

24111713

2014

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations.

24829265

2014

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

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

20624503

2011

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.

21769673

2011

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy.

20819418

2010

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

Quantification of mutant versus wild-type myosin in human muscle biopsies using nano-LC/ESI-MS.

18020371

2007

dbSNP:

rs121913627

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:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

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

11133230

2001

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.

11377367

2001

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.

9826622

1998

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

"Sudden cardiac death in familial hypertrophic cardiomyopathy: are ""benign"" mutations really benign?"

9271024

1997

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.

9172070

1997

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome.

8981935

1996

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.

8281650

1994

dbSNP:

rs121913627

MYH7

0.700

CausalMutation

CLINVAR

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

1552912

1992

dbSNP:

rs121913627

MYH7

0.700

GeneticVariation

CLINVAR