Gene: PRKN ×
Source: UNIPROT ×
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 UNIPROT Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 9560156 1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene. 9731209 1998
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT 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
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 UNIPROT Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. 10888878 2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Association between early-onset Parkinson's disease and mutations in the parkin gene. 10824074 2000
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 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia. 11163284 2001
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. 11487568 2001
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 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 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 UNIPROT Complex relationship between Parkin mutations and Parkinson disease. 12116199 2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Molecular findings in familial Parkinson disease in Spain. 12056932 2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. 11971093 2002
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT [A new point mutation on exon 2 of parkin gene in Parkinson's disease]. 12362318 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 UNIPROT The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. 12925569 2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. 12730996 2003
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease UNIPROT Novel parkin mutations detected in patients with early-onset Parkinson's disease. 15584030 2005
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		1.000 GeneticVariation disease 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 		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 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. 19229105 2009