DisGeNET - a database of gene-disease associations

PAGR1, PAXIP1 associated glutamate rich protein 1, 79447

N. diseases: 79; N. variants: 7

Disease: Episodic Kinesigenic Dyskinesia 1 ×

Variant: rs1301400509 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1301400509

rs1301400509

0.925

0.080

16

29814412

missense variant

C/T

snv

7.0E-06

CUI:	C4552000
Disease:	Episodic Kinesigenic Dyskinesia 1

Episodic Kinesigenic Dyskinesia 1

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700