DisGeNET - a database of gene-disease associations

Ventricular arrhythmia, C0085612

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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:	4000
Gene Symbol:	LMNA

LMNA

0.200

Biomarker

disease

HPO

Entrez Id:	6262
Gene Symbol:	RYR2

RYR2

0.200

Biomarker

disease

HPO

Entrez Id:	3784
Gene Symbol:	KCNQ1

KCNQ1

0.200

GeneticVariation

disease

CLINVAR

Entrez Id:	5350
Gene Symbol:	PLN

PLN

0.160

Biomarker

disease

HPO

Entrez Id:	5318
Gene Symbol:	PKP2

PKP2

0.130

Biomarker

disease

HPO

Entrez Id:	1832
Gene Symbol:	DSP

DSP

0.120

GeneticVariation

disease

CLINVAR

Entrez Id:	7273
Gene Symbol:	TTN

TTN

0.110

GeneticVariation

disease

CLINVAR

Entrez Id:	859
Gene Symbol:	CAV3

CAV3

0.110

Biomarker

disease

HPO

Entrez Id:	1837
Gene Symbol:	DTNA

DTNA

0.100

Biomarker

disease

HPO

Entrez Id:	7043
Gene Symbol:	TGFB3

TGFB3

0.100

Biomarker

disease

HPO

Entrez Id:	291
Gene Symbol:	SLC25A4

SLC25A4

0.100

Biomarker

disease

HPO

Entrez Id:	2992
Gene Symbol:	GYG1

GYG1

0.100

Biomarker

disease

HPO

Entrez Id:	11232
Gene Symbol:	POLG2

POLG2

0.100

Biomarker

disease

HPO

Entrez Id:	56652
Gene Symbol:	TWNK

TWNK

0.100

Biomarker

disease

HPO

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	3728
Gene Symbol:	JUP

JUP

0.100

Biomarker

disease

HPO

Entrez Id:	5428
Gene Symbol:	POLG

POLG

0.100

Biomarker

disease

HPO

Entrez Id:	50484
Gene Symbol:	RRM2B

RRM2B

0.100

Biomarker

disease

HPO

Entrez Id:	775
Gene Symbol:	CACNA1C

CACNA1C

0.100

Biomarker

disease

HPO

Entrez Id:	64072
Gene Symbol:	CDH23

CDH23

0.100

Biomarker

disease

HPO

Entrez Id:	1824
Gene Symbol:	DSC2

DSC2

0.100

Biomarker

disease

HPO

Entrez Id:	3784
Gene Symbol:	KCNQ1

KCNQ1

0.200

GeneticVariation

disease

BEFREE

Mutations in HERG or KVLQT1 genes predispose affected individuals to ventricular arrhythmias and sudden death.

9476573

1997

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

0.100

GeneticVariation

disease

BEFREE

Mutations in HERG or KVLQT1 genes predispose affected individuals to ventricular arrhythmias and sudden death.

9476573

1997

Entrez Id:	183
Gene Symbol:	AGT

AGT

0.050

GeneticVariation

disease

BEFREE

Angiotensin-converting enzyme and angiotensin II receptor 1 polymorphism in coronary disease and malignant ventricular arrhythmias.

10615414

1999

Entrez Id:	1636
Gene Symbol:	ACE

ACE

0.030

GeneticVariation

disease

BEFREE

Patients with coronary artery disease and left ventricular dysfunction carrying ACE D and AT1 C alleles are at increased risk for development of malignant ventricular arrhythmias.

10615414

1999