DisGeNET - a database of gene-disease associations

Short QT Syndrome 1, C1865020

Source: ALL

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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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	3757
Gene Symbol:	KCNH2

KCNH2

Q12809

potassium voltage-gated channel subfamily H member 2

Ion channel

189

0.522

0.731

1.00

0.920

None

1.000

1995

2018

Entrez Id:	3784
Gene Symbol:	KCNQ1

KCNQ1

P51787

potassium voltage-gated channel subfamily Q member 1

Ion channel

281

0.485

0.769

4.5E-08

0.300

None

1.000

2004

2015

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

P63252

potassium inwardly rectifying channel subfamily J member 2

Ion channel

117

0.572

0.731

0.31

0.300

None

1.000

2005

Entrez Id:	781
Gene Symbol:	CACNA2D1

CACNA2D1

P54289

calcium voltage-gated channel auxiliary subunit alpha2delta 1

Ion channel

0.641

0.500

1.00

0.300

None

1.000

2011