Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751037529
rs751037529
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
rs751037529
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.810 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs751037529
rs751037529
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		G 0.810 CausalMutation CLINVAR

dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Parkinson's Disease in Saudi Patients: A Genetic Study. 26274610

2015
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma. 25877876

2015
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant. 20889486

2011
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Parkin mono-ubiquitinates Bcl-2 and regulates autophagy. 20889974

2010
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Parkin analysis in early onset Parkinson's disease. 18519021

2008
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations. 16476817

2006
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Novel parkin mutations detected in patients with early-onset Parkinson's disease. 15584030

2005
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. 12629236

2003
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.800 CausalMutation CLINVAR Parkin mutations are frequent in patients with isolated early-onset parkinsonism. 12764050

2003