Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant. 20889486

2011
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. 20404107

2010
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Parkin mono-ubiquitinates Bcl-2 and regulates autophagy. 20889974

2010
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 19801972

2009
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105

2009
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease. 17360614

2007
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Novel parkin mutations detected in patients with early-onset Parkinson's disease. 15584030

2005
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. 12629236

2003
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. 12925569

2003
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism. 12397156

2002
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Molecular findings in familial Parkinson disease in Spain. 12056932

2002
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT [A new point mutation on exon 2 of parkin gene in Parkinson's disease]. 12362318

2002
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. 11971093

2002
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia. 11163284

2001
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. 11487568

2001
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. 11179010

2001
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. 11590439

2001
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Association between early-onset Parkinson's disease and mutations in the parkin gene. 10824074

2000
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. 10939576

2000
dbSNP: rs55830907
rs55830907
PRKN
0.700 GeneticVariation UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156

1998