DisGeNET - a database of gene-disease associations

Hypertrophic Cardiomyopathy, C0007194

Variant: rs397516070 ×

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:

rs397516070

MYBPC3

0.700

CausalMutation

CLINVAR

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

28679633

2017

dbSNP:

rs397516070

MYBPC3

0.700

CausalMutation

CLINVAR

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

27532257

2017

dbSNP:

rs397516070

MYBPC3

0.700

CausalMutation

CLINVAR

Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.

28971120

2017

dbSNP:

rs397516070

MYBPC3

0.700

CausalMutation

CLINVAR

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

19150014

2009

dbSNP:

rs397516070

MYBPC3

0.700

CausalMutation

CLINVAR

Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.

18258667

2008

dbSNP:

rs397516070

MYBPC3

0.700

CausalMutation

CLINVAR

Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy.

18374358

2008

dbSNP:

rs397516070

MYBPC3

0.700

CausalMutation

CLINVAR

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

12818575

2003