Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE PARK2 mutations cause early-onset Parkinson's disease (EO-PD). 31846738 2020
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE PARK2, an autosomal recessive gene, is the most common one referring to early-onset Parkinson disease (EOPD). 30702579 2019
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE Mutations in Parkin (PARK2), which encodes an E3 ubiquitin ligase implicated in mitophagy, are the most common cause of early-onset Parkinson's disease (EOPD). 30994895 2019
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE A total of 97 patients including 52 SEOPD and 45 familial PD (FEOPD: 23; FLOPD: 22) were screened for variants in PRKN by PCR- Sanger sequencing. 31409571 2019
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE Han Chinese family with early-onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene. 31386307 2019
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE Mutations in the PARK2 (PRKN) gene are the most common cause of autosomal-recessive (AR) juvenile parkinsonism and young-onset Parkinson's disease (YOPD). 30099245 2018
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE Mutations in the parkin gene (PRKN) are the most commonly identified genetic factors in early onset Parkinson disease (EOPD), with biallelic mutations, resulting in a clinical phenotype. 29577677 2018
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 Biomarker disease BEFREE Both PINK1 and parkin are the responsible genes (PARK6 and PARK2, respectively) for familial early-onset Parkinson's disease (PD). 28361483 2018
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 Biomarker disease BEFREE Our findings support a model in which the PD-related E3 ubiquitin ligase Parkin directly participates in the selective regulation of the MCU complex regulator MICU1 and, indirectly, also of the MICU2 gatekeeper, thus indicating that Parkin loss of function could contribute to the impairment of the ability of mitochondria to handle Ca<sup>2+</sup> and consequently to the pathogenesis of PD. 30242232 2018
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE Early-onset Parkinson's disease (PD) is the most common inherited form of parkinsonism, with the PRKN gene being the most frequently identified mutated. 30328284 2018
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE Mutations in parkin (PARK2) and Pink1 (PARK6) are responsible for autosomal recessive forms of early onset Parkinson's disease (PD). 28106473 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE We found 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease; p.T240M (n = 1) and p.Q34fs delAG (n = 1). 27776828 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE Mutations in PINK1 and PARKIN are the most common causes of recessive early-onset Parkinson's disease (EOPD). 28438176 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE Bi-allelic mutations in the genes Parkin (PARK2), PINK1 (PARK6) and DJ-1 (PARK7) are established causes of autosomal recessive early-onset Parkinson's Disease (EOPD). 28789629 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE Conclusion Although it should be supported by further analysis, based on the results of the present study, the methylation status of SNCA and PARK2 genes might contribute to EOPD pathogenesis. 28830306 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 Biomarker disease BEFREE The discovery of PARK2 as a cause of young-onset Parkinson's disease has had a major impact on other neurodegenerative diseases. 28620835 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population. 28913705 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE Mutations in PINK1 and PARKIN cause neuronal death in early-onset Parkinson's disease (PD), thought to be due to mitochondrial dysfunction. 28211874 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE In the present study, parkin-mutant human skin primary fibroblasts have been considered as cellular model of PD to investigate on possible lipid alterations associated with the lack of parkin protein. 28109117 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 CausalMutation disease CLINVAR Exome sequencing in dementia with Lewy bodies. 26836416 2016
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 CausalMutation disease CLINVAR Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD. 27182553 2016
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE The frequency of EOPD-associated variations in the PRKN gene was 34%. 27455133 2016
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 CausalMutation disease CLINVAR Neurocognitive & neuropsychiatric phenotypes of PARK2-associated early-onset Parkinson's disease in two siblings. 26855076 2016
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 CausalMutation disease CLINVAR Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels. 27294386 2016
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
0.200 GeneticVariation disease BEFREE PARK2 mutations are the commonest cause of autosomal recessive EOPD followed by PINK1.DJ1 mutations is rare and there is scarce literature on its phenotype and long term outcome. 27592010 2016