Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 GeneticVariation disease BEFREE Based on the fact that mutations in the PINK1 gene cause autosomal recessive juvenile parkinsonism, a number of mouse models with deletion of the PINK1 gene were generated. 31046796 2019
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 Biomarker disease BEFREE These results demonstrated that PINK1-Parkin-mediated mitophagy played a protective role in CI-AKI by reducing NLRP3 inflammasome activation. 31229841 2019
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 Biomarker disease BEFREE Finally, we explored the role of PINK1/Parkin signaling in albumin-induced mitophagy by inhibiting mitophagy by knockdown of PARK2 (Parkin) level. 29494565 2018
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 Biomarker disease BEFREE Mutations in the E3 ubiquitin ligase parkin (PARK2, also known as PRKN) and the protein kinase PINK1 (also known as PARK6) are linked to autosomal-recessive juvenile parkinsonism (AR-JP)<sup>1,2</sup>; at the cellular level, these mutations cause defects in mitophagy, the process that organizes the destruction of damaged mitochondria<sup>3,4</sup>. 29995846 2018
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 GeneticVariation disease BEFREE Mutations in PARK6 (PINK1) and PARK2 (Parkin) are linked to rare familial cases of Parkinson's disease (PD). 29166608 2017
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 GeneticVariation disease BEFREE Pathogenic mutations in PINK1 have been identified as a cause of early-onset autosomal recessive familial Parkinson's disease (PD). 28806787 2017
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 GeneticVariation disease BEFREE Autosomal-recessive juvenile Parkinsonism (AR-JP) is caused by mutations in a number of PARK genes, in particular the genes encoding the E3 ubiquitin ligase Parkin (PARK2, also known as PRKN) and its upstream protein kinase PINK1 (also known as PARK6). 29160309 2017
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 GeneticVariation disease BEFREE We attempted to discover the putative causal variant in an Indian family with autosomal-recessive juvenile Parkinsonism (ARJP), tested negative for mutations in PARK2, PINK1 and DJ1. 26864383 2016
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 Biomarker disease CTD_human Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells. 26558463 2015
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 GeneticVariation disease BEFREE The E3 ubiquitin ligase PARKIN (encoded by PARK2) and the protein kinase PINK1 (encoded by PARK6) are mutated in autosomal-recessive juvenile Parkinsonism (AR-JP) and work together in the disposal of damaged mitochondria by mitophagy. 26161729 2015
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 Biomarker disease CTD_human Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson's disease. 24441527 2014
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 Biomarker disease CTD_human Downregulation of Pink1 influences mitochondrial fusion-fission machinery and sensitizes to neurotoxins in dopaminergic cells. 24792327 2014
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 Biomarker disease CTD_human Low doses of paraquat and polyphenols prolong life span and locomotor activity in knock-down parkin Drosophila melanogaster exposed to oxidative stress stimuli: implication in autosomal recessive juvenile parkinsonism. 23046578 2013
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 GeneticVariation disease BEFREE We performed phosphorous ((31)P) and proton ((1)H) 3-T magnetic resonance spectroscopic imaging (MRSI) in 11 members of a German family with hereditary PD due to PINK1 mutations (PARK6) compared to 23 age-matched controls. 23251494 2012
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 GeneticVariation disease BEFREE Fortunately, our understanding of the pathogenesis of two types of recessive familial PDs--early-onset familial PD caused by dysfunction of the PTEN induced putative kinase 1 (PINK1) gene and autosomal recessive juvenile Parkinsonism (ARJP) caused by a mutation in the Parkin gene--has evolved and continues to expand. 20724841 2010
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 Biomarker disease CTD_human Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. 15349871 2004
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 GeneticVariation disease BEFREE PARK6 appears to be an important locus for ARJP in Europe. 12548371 2002
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.400 Biomarker disease CTD_human Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. 11254447 2001