Gene: PRKN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514694
rs397514694
PRKN
0.800 GeneticVariation UNIPROT PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. 20404107

2010
dbSNP: rs397514694
rs397514694
PRKN
0.800 GeneticVariation UNIPROT Parkin mono-ubiquitinates Bcl-2 and regulates autophagy. 20889974

2010
dbSNP: rs55774500
rs55774500
PRKN
0.800 GeneticVariation UNIPROT Parkin mono-ubiquitinates Bcl-2 and regulates autophagy. 20889974

2010
dbSNP: rs55774500
rs55774500
PRKN
0.800 GeneticVariation UNIPROT PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. 20404107

2010
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 19801972

2009
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2. 18973255

2009
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. 19205068

2009
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105

2009
dbSNP: rs137853057
rs137853057
PRKN
0.800 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105

2009
dbSNP: rs137853057
rs137853057
PRKN
0.800 GeneticVariation UNIPROT Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 19801972

2009
dbSNP: rs137853058
rs137853058
PRKN
0.800 GeneticVariation UNIPROT Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 19801972

2009
dbSNP: rs137853058
rs137853058
PRKN
0.800 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105

2009
dbSNP: rs137853060
rs137853060
PRKN
0.800 GeneticVariation UNIPROT Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 19801972

2009
dbSNP: rs137853060
rs137853060
PRKN
0.800 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105

2009
dbSNP: rs147757966
rs147757966
PRKN
T 0.800 CausalMutation CLINVAR Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. 19636047

2009
dbSNP: rs191486604
rs191486604
PRKN
T 0.800 GeneticVariation CLINVAR Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia. 18486522

2009
dbSNP: rs34424986
rs34424986
PRKN
0.800 GeneticVariation UNIPROT Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 19801972

2009
dbSNP: rs34424986
rs34424986
PRKN
0.800 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105

2009
dbSNP: rs397514694
rs397514694
PRKN
0.800 GeneticVariation UNIPROT Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 19801972

2009
dbSNP: rs397514694
rs397514694
PRKN
0.800 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105

2009
dbSNP: rs55774500
rs55774500
PRKN
0.800 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105

2009
dbSNP: rs55774500
rs55774500
PRKN
0.800 GeneticVariation UNIPROT Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 19801972

2009
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. 18211709

2008
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Parkin analysis in early onset Parkinson's disease. 18519021

2008
dbSNP: rs34424986
rs34424986
PRKN
A 0.800 CausalMutation CLINVAR Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. 17766365

2008