Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Parkin is an E3 ubiquitin ligase mutated in autosomal recessive juvenile Parkinson's disease. 22527713

2012
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. 11590439

2001
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation CLINVAR Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia. 18486522

2009
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Mutations in the park2 gene, encoding the RING-inBetweenRING-RING E3 ubiquitin ligase parkin, cause 50% of autosomal recessive juvenile Parkinsonism cases. 23770917

2013
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Loss of function mutations in the gene PARK2, which encodes the protein parkin, cause autosomal recessive juvenile parkinsonism, a neurodegenerative disease characterized by degeneration of the dopaminergic neurons localized in the substantia nigra pars compacta. 28335015

2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE It also revealed a 0.13-Mb deletion at 6q26 located in PARK2 gene, and the mutation of the gene is known to be related to autosomal recessive juvenile Parkinson disease.The parents chose termination of pregnancy (TOP). 27828868

2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Parkin is an E3 ubiquitin ligase whose mutations cause autosomal recessive juvenile Parkinson's disease (PD). 28254618

2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Loss-of-function mutations of the parkin gene, which encodes a ubiquitin-protein ligase, are a common cause of autosomal recessive juvenile parkinsonism (ARJP). 15689351

2005
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. 10888878

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Mutations in the parkin gene are linked to the autosomal recessive form known as autosomal recessive juvenile parkinsonism, park2. 17678490

2007
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE This Tunisian kindred with AR-JP linked to a micro-deletion of the parkin gene shows clinical similarities with the previously reported Japanese and European families. 12781588

2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism. 12889082

2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT Novel parkin mutations detected in patients with early-onset Parkinson's disease. 15584030

2005
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Autosomal recessive juvenile parkinsonism is a neurodegenerative disorder associated with mutations in the parkin gene. 12397156

2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT Association between early-onset Parkinson's disease and mutations in the parkin gene. 10824074

2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Detection of compound heterozygous deletions in the parkin gene of fibroblasts in patients with autosomal recessive hereditary parkinsonism (PARK2). 16517073

2006
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE We attempted to discover the putative causal variant in an Indian family with autosomal-recessive juvenile Parkinsonism (ARJP), tested negative for mutations in PARK2, PINK1 and DJ1. 26864383

2016
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. 20404107

2010
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Mutations of the parkin gene on chromosome 6q25-27 are the predominant genetic cause of early-onset and autosomal recessive juvenile parkinsonism. 12547187

2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE However, the patient with autosomal recessive juvenile parkinsonism (AR-JP), caused by the parkin gene, presented here showed normal 123I-MIBG myocardial uptake, suggesting that AR-JP is a distinct disease entity from PD. 15704207

2005
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Mutations in the parkin gene causal of autosomal recessive juvenile parkinsonism highlight that ubiquitin-mediated proteolysis may play an important role in the pathobiology of PD. 11580890

2001
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 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
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation BEFREE Mutations in the human parkin gene cause autosomal recessive juvenile parkinsonism, a heritable form of Parkinson's disease (PD). 15684050

2005
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease. 17360614

2007
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. 12925569

2003