Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Parkinson's Disease in Saudi Patients: A Genetic Study. 26274610

2015
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma. 25877876

2015
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease. 24167364

2013
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease. 23275044

2013
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant. 20889486

2011
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT Parkin mono-ubiquitinates Bcl-2 and regulates autophagy. 20889974

2010
dbSNP: rs137853054
rs137853054
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: 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: rs137853054
rs137853054
PRKN
0.800 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: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations. 16476817

2006
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease. 16227559

2005
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT Novel parkin mutations detected in patients with early-onset Parkinson's disease. 15584030

2005
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. 12629236

2003
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. 12629236

2003
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. 12925569

2003
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Parkin mutations are frequent in patients with isolated early-onset parkinsonism. 12764050

2003
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT Molecular findings in familial Parkinson disease in Spain. 12056932

2002
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism. 12397156

2002
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT [A new point mutation on exon 2 of parkin gene in Parkinson's disease]. 12362318

2002