DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 ×

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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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	6262
Gene Symbol:	RYR2

RYR2

ryanodine receptor 2

0.539

0.615

1.00

CUI:	C4053736
Disease:	Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

disease

0.420

definitive

1.000

1990

2017

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

potassium voltage-gated channel subfamily H member 2

0.522

0.731

1.00

CUI:	C4053736
Disease:	Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

disease

0.010

None

1.000

2018

Entrez Id:	9992
Gene Symbol:	KCNE2

KCNE2

potassium voltage-gated channel subfamily E regulatory subunit 2

0.628

0.423

1.0E-04

CUI:	C4053736
Disease:	Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

disease

0.010

None

1.000

2012