DisGeNET - a database of gene-disease associations

PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE, C1868675

Variant: rs751037529 ×

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:

rs751037529

PRKN

0.810

GeneticVariation

BEFREE

The homozygous variant, c.850G>C (p.G284R), in the parkin gene is possibly responsible for AR-JP in this pedigree.

27177722

2016

dbSNP:

rs751037529

PRKN

0.810

GeneticVariation

UNIPROT

EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

23279440

2013

dbSNP:

rs751037529

PRKN

0.810

CausalMutation

CLINVAR