PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Disease: PARKINSON DISEASE, LATE-ONSET ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE Mutation screening of PARK2 was performed in 225 Serbian PD patients (143 males and 82 females) with disease onset before 50 years and/or positive family history with apparent AR inheritance. 30099245 2018
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease UNIPROT Synaptotagmin-11 is a critical mediator of parkin-linked neurotoxicity and Parkinson's disease-like pathology. 29311685 2018
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE The percentage of TH(+) neurons was decreased in Parkinson's disease (PD) patient-derived neurons carrying various mutations in PARK2 compared with an age-matched control subject. 25843045 2015
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE Interestingly, axonal alpha-synuclein deposits were absent in epicardial tissue of the PARK2 mutation carrier while they were present in the two PD patients. 25960264 2015
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE Moreover, Miro1 turnover on damaged mitochondria is altered in Parkinson disease (PD) patient-derived fibroblasts containing a pathogenic mutation in the PARK2 gene (encoding Parkin). 24671417 2014
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE We analyzed the 12 coding exons of PARK2 gene in 16 early onset PD patients of South Indian ethnicity. 22766139 2012
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE A functional SNP (rs9347683) in the promoter region of the parkin gene had been implicated as a risk factor in older Parkinson's disease (PD) patients. 21176923 2011
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE The identification of copy number variations in the Parkin gene in healthy control individuals suggests no major role of these variations in late onset Parkinson's disease. 21734494 2011
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE We present results of mutation screening of PRKN gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. 21322020 2011
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease UNIPROT PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. 19966284 2010
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE Early- and late-onset Parkinson's disease (EOPD and LOPD) have been associated with mutations in the PARKIN gene. 19909784 2010
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE The aim of the study was to explore the prevalence and differences of nonmotor symptoms (NMSs) in patients with young-onset Parkinson's disease (YOPD) with and without mutations in the Parkin gene and late-onset Parkinson's disease (LOPD). 20629119 2010
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts. 16367892 2006
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease UNIPROT Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. 12629236 2003
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease UNIPROT Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. 12730996 2003
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE The parkin gene is not a major susceptibility locus for typical late-onset Parkinson's disease. 11487208 2001
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 Biomarker disease BEFREE The parkin gene is not involved in late-onset Parkinson's disease. 11468333 2001
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.400 GeneticVariation disease BEFREE We report polymorphism of the parkin gene in 160 sporadic Parkinson's disease (PD) patients and controls. 10319889 1999