Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease BEFREE Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease CLINVAR Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism. 15090472 2004
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. 12112109 2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease BEFREE Autosomal-recessive juvenile parkinsonism (AR-JP) is caused by mutations in the parkin gene. 12846978 2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE Homozygous deletions and large heterozygous deletions have been observed in PARK2 in ARJP patients. 12874785 2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families. 12114481 2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. 12629236 2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease BEFREE Since the discovery of the Parkin gene in the late 1990s, researchers in many countries have begun extensive research on this gene and found that in addition to AR-JP, the Parkin gene is associated with many diseases, including type 2 diabetes, leprosy, Alzheimer's, autism, and cancer. 31753025 2019
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease CLINVAR Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin. 25939424 2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease BEFREE Mutational dysfunction of PARKIN gene, which encodes a double RING finger protein and has ubiquitin ligase E3 activity, is the major cause of autosomal recessive juvenile Parkinsonism. 16339143 2006
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease BEFREE The PARK2 gene, previously identified as a mutated target in patients with autosomal recessive juvenile parkinsonism (ARJP), has recently been found to be a candidate tumor suppressor gene in ovarian, breast, lung and hepatocellular carcinoma that maps to the third common fragile site (CFS) FRA6E. 16287063 2006
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism. 12397156 2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease BEFREE We identified a mutant PARKIN protein in fibroblast cultures from a pair of siblings with ARJP who were homozygous for the exon 4-deleted Parkin gene. 19945426 2010
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease. 11431533 2001
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease BEFREE While mutations in the Park-2 gene are the most frequent cause of autosomal-recessive juvenile parkinsonism (AR-JP), they are also present in several forms of tauopathies. 18346797 2008
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Complex relationship between Parkin mutations and Parkinson disease. 12116199 2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease BEFREE The phosphoUb binding site on PARKIN comprises a conserved phosphate pocket and harbours residues mutated in patients with AR-JP. 26161729 2015