Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Molecular findings in familial Parkinson disease in Spain. 12056932

2002
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		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
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT [A new point mutation on exon 2 of parkin gene in Parkinson's disease]. 12362318

2002
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. 11971093

2002
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. 11590439

2001
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. 11487568

2001
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 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: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 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: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. 10939576

2000
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Association between early-onset Parkinson's disease and mutations in the parkin gene. 10824074

2000
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156

1998
dbSNP: rs137853054
rs137853054
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		C 0.800 CausalMutation CLINVAR

dbSNP: rs137853057
rs137853057
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: rs137853057
rs137853057
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: rs137853057
rs137853057
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: rs137853057
rs137853057
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: rs137853057
rs137853057
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: rs137853057
rs137853057
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: rs137853057
rs137853057
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: rs137853057
rs137853057
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: rs137853057
rs137853057
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: rs137853057
rs137853057
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: rs137853057
rs137853057
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT [A new point mutation on exon 2 of parkin gene in Parkinson's disease]. 12362318

2002
dbSNP: rs137853057
rs137853057
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. 11971093

2002
dbSNP: rs137853057
rs137853057
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.800 GeneticVariation UNIPROT Molecular findings in familial Parkinson disease in Spain. 12056932

2002