DisGeNET - a database of gene-disease associations

Cardiomyopathy, Hypertrophic, Familial, C0949658

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7139
Gene Symbol:	TNNT2

TNNT2

0.500

GeneticVariation

disease

CLINVAR

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

0.430

GeneticVariation

disease

CLINVAR

Entrez Id:	4633
Gene Symbol:	MYL2

MYL2

0.430

CausalMutation

disease

CLINVAR

Entrez Id:	3920
Gene Symbol:	LAMP2

LAMP2

0.310

GeneticVariation

disease

CLINVAR

Entrez Id:	85366
Gene Symbol:	MYLK2

MYLK2

0.300

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

0.300

GeneticVariation

disease

CLINVAR

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

0.300

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	859
Gene Symbol:	CAV3

CAV3

0.210

Biomarker

disease

MGD

Entrez Id:	165904
Gene Symbol:	XIRP1

XIRP1

0.200

Biomarker

disease

MGD

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

0.200

Biomarker

disease

MGD

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

0.200

Biomarker

disease

MGD

Entrez Id:	5184
Gene Symbol:	PEPD

PEPD

0.200

Biomarker

disease

MGD

Entrez Id:	857
Gene Symbol:	CAV1

CAV1

0.200

Biomarker

disease

MGD

Entrez Id:	3357
Gene Symbol:	HTR2B

HTR2B

0.200

Biomarker

disease

MGD

Entrez Id:	136319
Gene Symbol:	MTPN

MTPN

0.200

Biomarker

disease

MGD

Entrez Id:	70
Gene Symbol:	ACTC1

ACTC1

0.130

GeneticVariation

disease

CLINVAR

Entrez Id:	70
Gene Symbol:	ACTC1

ACTC1

0.130

CausalMutation

disease

CLINVAR

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

0.120

CausalMutation

disease

CLINVAR

Entrez Id:	5350
Gene Symbol:	PLN

PLN

0.110

GeneticVariation

disease

CLINVAR

Entrez Id:	2318
Gene Symbol:	FLNC

FLNC

0.110

GeneticVariation

disease

CLINVAR

Entrez Id:	4634
Gene Symbol:	MYL3

MYL3

0.110

GeneticVariation

disease

CLINVAR

Entrez Id:	387119
Gene Symbol:	CEP85L

CEP85L

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	100529097
Gene Symbol:	RPL36A-HNRNPH2

RPL36A-HNRNPH2

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	2717
Gene Symbol:	GLA

GLA

0.100

CausalMutation

disease

CLINVAR