DisGeNET - a database of gene-disease associations

PRKRA, protein activator of interferon induced protein kinase EIF2AK2, 8575

N. diseases: 113; N. variants: 9

Disease: DYSTONIA 16 (disorder) ×

Variant: rs730880307 ×

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:

rs730880307

rs730880307

Entrez Id:	8575
Gene Symbol:	PRKRA

PRKRA

CUI:	C2677567
Disease:

DYSTONIA 16 (disorder)

C

0.700

CausalMutation

CLINVAR