DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Dystonia, Paroxysmal ×

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

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:	25953
Gene Symbol:	PNKD

PNKD

PNKD metallo-beta-lactamase domain containing

0.615

0.615

4.1E-08

CUI:	C0393588
Disease:	Dystonia, Paroxysmal

Dystonia, Paroxysmal

phenotype

0.110

None

1.000

1999

1999

Entrez Id:	2312
Gene Symbol:	FLG

FLG

filaggrin

0.525

0.846

2.9E-04

CUI:	C0393588
Disease:	Dystonia, Paroxysmal

Dystonia, Paroxysmal

phenotype

0.100

None

Entrez Id:	339400
Gene Symbol:	FLG-AS1

FLG-AS1

FLG antisense RNA 1

0.700

0.538

CUI:	C0393588
Disease:	Dystonia, Paroxysmal

Dystonia, Paroxysmal

phenotype

0.100

None

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

sodium voltage-gated channel alpha subunit 2

0.518

0.731

1.00

CUI:	C0393588
Disease:	Dystonia, Paroxysmal

Dystonia, Paroxysmal

phenotype

0.100

None

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

solute carrier family 2 member 1

0.388

0.808

0.99

CUI:	C0393588
Disease:	Dystonia, Paroxysmal

Dystonia, Paroxysmal

phenotype

0.100

None