DisGeNET - a database of gene-disease associations

Sporadic Parkinson disease, C4511452

Variant: rs1320254777 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1320254777

rs1320254777

GCH1

0.010

GeneticVariation

BEFREE

Further research is needed to study the contribution of the novel found mutation p.R32S in VPS35 to the pathogenesis of PD.

2016