DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathy, Hypertrophic, Familial ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	70
Gene Symbol:	ACTC1

ACTC1

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.130

GeneticVariation

CLINVAR

Entrez Id:	70
Gene Symbol:	ACTC1

ACTC1

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.130

CausalMutation

CLINVAR

Entrez Id:	387119
Gene Symbol:	CEP85L

CEP85L

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Entrez Id:	1674
Gene Symbol:	DES

DES

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Entrez Id:	2273
Gene Symbol:	FHL1

FHL1

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Entrez Id:	2318
Gene Symbol:	FLNC

FLNC

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.110

GeneticVariation

CLINVAR

Entrez Id:	2717
Gene Symbol:	GLA

GLA

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

CausalMutation

CLINVAR

Entrez Id:	2717
Gene Symbol:	GLA

GLA

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.300

GeneticVariation

CLINVAR

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.310

GeneticVariation

CLINVAR

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

CausalMutation

CLINVAR

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

16585054

2006

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

24503780

2014

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Primary prevention of sudden death in patients with lamin A/C gene mutations.

16407522

2006

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.

18929575

2008

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.

21551322

2011

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.

23782526

2013

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging.

20439259

2010

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.

18337725

2008

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

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

28971120

2017

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

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

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

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

24793961

2014

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

27600940

2016

Entrez Id:	4607
Gene Symbol:	MYBPC3

MYBPC3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

21302287

2011