PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Disease: Parkinson Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE This cell line lacks the expression of all PARKIN isoforms and is valuable for elucidating the role of PARK2 mutations in PD. 31698191 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease LHGDN [Function of Parkin]. 12138708 2002
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD. 11920285 2002
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Parkin, a RING-between-RING-type E3 ubiquitin ligase associated with Parkinson's disease, has a wide neuroprotective activity, preventing cell death in various stress paradigms. 23453807 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Exon rearrangements in the PARK2 gene play a significant role in the pathogenesis of sporadic PD in Russian patients. 21915905 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. 12975291 2003
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Parkin, an E3 ubiquitin ligase, is the most frequently mutated gene in hereditary Parkinson's disease. 29138676 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE A subset of familial PD is linked to mutations in PARK2 and PINK1, which lead to dysfunctional mitochondria-related proteins Parkin and PINK1, suggesting that pathways implicated in these monogenic forms could play a more general role in PD. 27641647 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients. 23531835 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Parkin gene mutation testing was performed in young onset PD (diagnosed <50 years old) to identify three groups: Parkin homozygous or compound heterozygote mutation carriers, Parkin single heterozygote mutation carriers, and non-carriers of Parkin mutations. 26626018 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE The clinical relevance of our findings is substantiated by the discovery of homozygous PARKIN (<i>PARK2</i>) p.S65N mutations in two unrelated patients with PD. 30404819 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Mutations in PARK2/Parkin, which encodes a ubiquitin E3 ligase, cause autosomal recessive Parkinson disease (PD). 20823226 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease LHGDN Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia. 18486522 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE From 102 patients, 40 with early-onset PD (<45 years at symptomatic onset) were selected for clinical assessment and parkin gene molecular analysis for duplications/deletions and point mutations. 15197707 2004
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Parkin is a ligase involved in ubiquitin-proteasome pathway and mutations in the parkin gene are the most common cause of recessive familial Parkinson's disease. 23146297 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE In the present report we have screened a cohort of Parkinson disease patients (n = 57) and healthy controls (n = 51) from Nigeria for mutations in the genes PRKN, LRRK2 and ATXN3. 18927607 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Genes which have been implicated in autosomal-recessive PD include PARK2 which codes for parkin, an E3 ubiquitin ligase that participates in a variety of cellular activities. 25399302 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE The turnover of damaged mitochondria by mitophagy is initiated by the Parkinson disease-linked genes PRKN and PINK1, and we recently investigated the role that interorganellar contact sites between the endoplasmic reticulum (ER) and the outer mitochondrial membrane (OMM) play in this pathway. 30081712 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin. 25939424 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE We observed that amino acids in Parkin targeted by nonsynonymous T1R-risk mutations were also enriched for mutations implicated in PD (<i>P</i> = 1.5 × 10<sup>-4</sup>). 31308240 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE We assessed point mutations and exon deletions and duplications in the Parkin gene in 247 probands with PD (age at onset < or =50 years) and 104 control probands enrolled in the Genetic Epidemiology of Parkinson's Disease (GEPD) study. 18413468 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE Mutations in PARKIN, PTEN-induced kinase 1 (PINK1) and DJ-1 are found in autosomal recessive forms and some sporadic cases of Parkinson's disease. 17499497 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE An early-onset form of Parkinson's disease is associated with mutations in the PINK1 kinase and PRKN ubiquitin ligase genes<sup>3</sup>. 31316206 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease BEFREE EOPD probands and their first-degree relatives who did not have Parkinson's disease (PD) were genotyped for mutations in the parkin gene and administered a comprehensive neuropsychological battery. 21092386 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.600 GeneticVariation disease LHGDN The point mutations on exon 2 of parkin gene were detected using polymerase chain reaction(PCR), agarose electrophoresis, single strand conformation polymorphism(SSCP), DNA sequencing and analysis of restrict enzyme in DNA of 60 Parkinson's disease patients with an onset age under 50 and 120 normal controls. 12362318 2002