DisGeNET - a database of gene-disease associations

Cardiomyopathy, Hypertrophic, Familial, C0949658

Variant: rs36211715 ×

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:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

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

27532257

2017

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

Genetics of hypertrophic cardiomyopathy in Norway.

24111713

2014

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

23283745

2013

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.

23816408

2013

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

22429680

2012

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein.

21674835

2011

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

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

20031618

2009

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].

19150014

2009

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2.

17192269

2007

dbSNP:

rs36211715

MYH7

0.710

GeneticVariation

BEFREE

The p.R870H mutation has been identified as the cause of familial hypertrophic cardiomyopathy in an Indian family.

17703256

2007

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

The p.R870H mutation has been identified as the cause of familial hypertrophic cardiomyopathy in an Indian family.

17703256

2007

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].

17125710

2006

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy.

16650083

2006

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

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

12974739

2003

dbSNP:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.

10725281

2000

dbSNP:

rs36211715

MYH7

0.710

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:

rs36211715

MYH7

0.710

CausalMutation

CLINVAR

A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.

7796500

1995