DisGeNET - a database of gene-disease associations

VRK1, VRK serine/threonine kinase 1, 7443

N. diseases: 79; N. variants: 13

Disease: Pontocerebellar Hypoplasia Type 1 ×

Variant: rs1566713184 ×

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:

rs1566713184

1.000

0.080

96860643

stop gained

C/T

snv

CUI:	C1843504
Disease:	Pontocerebellar Hypoplasia Type 1

Pontocerebellar Hypoplasia Type 1

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases

0.700