DisGeNET - a database of gene-disease associations

Hypertrophic Cardiomyopathy, C0007194

Variant: rs397516037 ×

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:

rs397516037

MYBPC3

0.700

CausalMutation

CLINVAR

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

18957093

2008

dbSNP:

rs397516037

MYBPC3

0.700

CausalMutation

CLINVAR

Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.

16715312

2006

dbSNP:

rs397516037

MYBPC3

0.700

CausalMutation

CLINVAR

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

16199542

2005

dbSNP:

rs397516037

MYBPC3

0.700

CausalMutation

CLINVAR

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

15519027

2004

dbSNP:

rs397516037

MYBPC3

0.700

CausalMutation

CLINVAR

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

11499719

2001