DisGeNET - a database of gene-disease associations

Cardiomyopathy, Hypertrophic, Familial, C0949658

Variant: rs267606908 ×

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:

rs267606908

MYH7

0.700

CausalMutation

CLINVAR

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

24704860

2014

dbSNP:

rs267606908

MYH7

0.700

CausalMutation

CLINVAR

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

24510615

2014

dbSNP:

rs267606908

MYH7

0.700

CausalMutation

CLINVAR

Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.

23054336

2013

dbSNP:

rs267606908

MYH7

0.700

CausalMutation

CLINVAR

Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

18761664

2008

dbSNP:

rs267606908

MYH7

0.700

CausalMutation

CLINVAR

Gene mutations in apical hypertrophic cardiomyopathy.

16267253

2005

dbSNP:

rs267606908

MYH7

0.700

CausalMutation

CLINVAR

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

15528230

2005

dbSNP:

rs267606908

MYH7

0.700

CausalMutation

CLINVAR

Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.

12081993

2002