DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathy, Hypertrophic, Familial ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs869025466

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

dbSNP:

rs869025465

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.

15114369

2004

dbSNP:

rs869025464

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

dbSNP:

rs869025463

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

dbSNP:

rs869025462

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

CTCATCA

0.700

GeneticVariation

CLINVAR

dbSNP:

rs869025461

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

22267749

2012

dbSNP:

rs869025460

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

dbSNP:

rs869025459

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

dbSNP:

rs869025431

FHL1

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

dbSNP:

rs794729138

PLN ; CEP85L

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

CCT

0.700

GeneticVariation

CLINVAR

dbSNP:

rs775404728

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

22267749

2012

dbSNP:

rs775404728

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

22112859

2012

dbSNP:

rs775404728

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.

12628722

2003

dbSNP:

rs775404728

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy.

17521870

2007

dbSNP:

rs775404728

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.

20542340

2010

dbSNP:

rs775404728

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

28771489

2017

dbSNP:

rs767698543

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.

19574547

2009

dbSNP:

rs758891557

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

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

27532257

2017

dbSNP:

rs758891557

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

21310275

2011

dbSNP:

rs758891557

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

24793961

2014

dbSNP:

rs730881115

TNNT2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730881069

TNNI3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

22765922

2012

dbSNP:

rs730881069

TNNI3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

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

20624503

2011

dbSNP:

rs730880944

MYL2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730880883

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

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

27532257

2017