Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 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

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 CausalMutation CLINVAR Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2. 17095157

2006

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 Biomarker MGD Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons. 12930822

2003

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 CausalMutation CLINVAR The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons. 23751051

2013

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 Biomarker BEFREE Parkin protein was absent in all regions of the brains of patients with AR-JP. 10319893

1999

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation BEFREE Mutations in the parkin gene are a common cause of autosomal recessive juvenile parkinsonism (AR-JP) but their role in idiopathic Parkinson's disease (PD) is not clear. 16019250

2005

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation UNIPROT Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. 19801972

2009

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156

1998

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation BEFREE Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156

1998

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 Therapeutic CTD_human Parkin disease: a phenotypic study of a large case series. 12764051

2003

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation CLINVAR Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism. 15090472

2004

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation UNIPROT Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. 12112109

2002

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation BEFREE Autosomal-recessive juvenile parkinsonism (AR-JP) is caused by mutations in the parkin gene. 12846978

2003

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation BEFREE Autosomal-recessive juvenile Parkinsonism (ARJP) is caused by mutations in the PARK2 gene coding for parkin and constitutes the most common familial form of PD. 15249681

2004

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 CausalMutation CLINVAR The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations. 20798600

2010

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 Biomarker BEFREE Studied families were selected for (1) affected sibling pairs sharing 2 alleles identical by state at PARK2 (D6S305) or (2) 1 or more family members with onset age younger than 54 years, regardless of D6S305 status. 16769863

2006

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation BEFREE Homozygous deletions and large heterozygous deletions have been observed in PARK2 in ARJP patients. 12874785

2003

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 CausalMutation CLINVAR Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts. 25815004

2015

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation UNIPROT Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105

2009

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation UNIPROT Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. 10939576

2000

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 Biomarker CTD_human Parkin protects against neurotoxicity in the 6-hydroxydopamine rat model for Parkinson's disease. 16914382

2006

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 Biomarker BEFREE Autosomal recessive juvenile parkinsonism (AR-JP, PARK2) is characterized by an early onset parkinsonism, often presenting with dystonia as an early feature. 15635662

2005

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation CLINVAR Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population. 21996382

2012

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 GeneticVariation BEFREE In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia. 19491146

2009

Entrez Id: 5071
Gene Symbol: PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000 Therapeutic CTD_human A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. 10072423

1999