DisGeNET - a database of gene-disease associations

PAGR1, PAXIP1 associated glutamate rich protein 1, 79447

N. diseases: 79; N. variants: 7

Disease: Paroxysmal kinesigenic choreoathetosis ×

Variant: rs796052941 ×

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

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs796052941

rs796052941

Entrez Id:	79447;112476
Gene Symbol:	PAGR1;PRRT2

PAGR1;PRRT2

CUI:	C1868682
Disease:

Paroxysmal kinesigenic choreoathetosis

T

0.700

GeneticVariation

CLINVAR