DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathy, Hypertrophic, Familial ×

The Variant filter does not apply in GDA tabs

Results per page

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:	7139
Gene Symbol:	TNNT2

TNNT2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

GeneticVariation

CLINVAR

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.430

GeneticVariation

CLINVAR

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.430

CausalMutation

CLINVAR

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.310

GeneticVariation

CLINVAR

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.300

GeneticVariation

CLINVAR

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:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.120

CausalMutation

CLINVAR

Entrez Id:	5350
Gene Symbol:	PLN

PLN

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.110

GeneticVariation

CLINVAR

Entrez Id:	2318
Gene Symbol:	FLNC

FLNC

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.110

GeneticVariation

CLINVAR

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.110

GeneticVariation

CLINVAR

Entrez Id:	387119
Gene Symbol:	CEP85L

CEP85L

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

CausalMutation

CLINVAR

Entrez Id:	100529097
Gene Symbol:	RPL36A-HNRNPH2

RPL36A-HNRNPH2

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

CausalMutation

CLINVAR

Entrez Id:	8557
Gene Symbol:	TCAP

TCAP

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Entrez Id:	4563
Gene Symbol:	TRNG

TRNG

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

CausalMutation

CLINVAR

Entrez Id:	4565
Gene Symbol:	TRNI

TRNI

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

CausalMutation

CLINVAR

Entrez Id:	1674
Gene Symbol:	DES

DES

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Entrez Id:	2717
Gene Symbol:	GLA

GLA

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Entrez Id:	8557
Gene Symbol:	TCAP

TCAP

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

CausalMutation

CLINVAR

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

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:	100529097
Gene Symbol:	RPL36A-HNRNPH2

RPL36A-HNRNPH2

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.100

GeneticVariation

CLINVAR

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, Familial

0.500

CausalMutation

CLINVAR

[Biochemical characterization of a high-molecular weight alkaline phosphatase in a patient with cholangiocarcinoma (alpha-1 alkaline phosphatase)].

2411171

1985