Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Biomarker group BEFREE By contrast, in familial cases of parkinsonism without Lewy bodies, such as in PARK2, the autonomic profile remains normal throughout the course of the disease. 29508456 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation group BEFREE Mutations in the GCH1 gene are the most common cause of DRD, however, in some cases when the disease is associated with parkinsonism mutations in the PARK2 gene may be identified. 27667361 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 PosttranslationalModification group BEFREE The present study suggests that Mn-induced alteration of DNA methylation of PINK1-PARK2 may influence mitochondrial function and promote Parkinsonism. 27913844 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation group BEFREE Parkin disease (PARK2, OMIM 602544) is an autosomal-recessive early-onset parkinsonism characterized by an early occurrence of lower limb dystonia. 27383763 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Biomarker group CTD_human A recurrent mutation in PARK2 is associated with familial lung cancer. 25640678 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Biomarker group BEFREE PARK2 (PARKIN) is an E3 ubiquitin ligase whose dysfunction has been associated with the progression of Parkinsonism and human malignancies, and its role in cancer remains to be explored. 25877876 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Biomarker group 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
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Biomarker group BEFREE Mutations in the PARK2 and PARK6 genes, coding for the cytosolic E3 ubiquitin protein ligase Parkin and the mitochondrial serine/threonine kinase PINK1 [phosphatase and tensin homologue (PTEN)-induced putative kinase 1], lead to clinically similar early-onset Parkinsonian syndromes. 25849933 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Therapeutic group 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
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation group BEFREE Mutations of parkin gene are not restricted to familial forms of Parkinsonism but they also occur in a wide variety of malignancies including gliomas. 26238155 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Therapeutic group CTD_human A recurrent mutation in PARK2 is associated with familial lung cancer. 25640678 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Biomarker group BEFREE PINK1 (PTEN induced putative kinase 1) and PARKIN (also known as PARK2) have been identified as the causal genes responsible for hereditary recessive early-onset Parkinsonism. 24784582 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Biomarker group BEFREE Dysfunction of PARK2 is associated with the progression of parkinsonism. 24297497 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Biomarker group BEFREE PINK1 and PARKIN are causal genes for hereditary Parkinsonism. 23751051 2013
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation group BEFREE Mutations in the gene encoding parkin (PARK2) are the most common cause of autosomal recessive juvenile-onset and young-onset parkinsonism. 23459986 2013
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Therapeutic group 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
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Biomarker group 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
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation group BEFREE Mutations in the Parkin gene (PARK2) are the major cause of autosomal recessive early-onset parkinsonism. 24244333 2013
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation group BEFREE Mutations in the parkin gene, which encodes a ubiquitin ligase, are a major genetic cause of parkinsonism. 22431710 2012
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation group BEFREE In three forms, caused by mutations in parkin (PARK2), PINK1 (PARK6), or DJ-1 (PARK7), the phenotype is usually characterized by levodopa-responsive parkinsonism without atypical features. 22166450 2012
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation group BEFREE Genetic screening reveals high frequency of PARK2 mutations and reduced Parkin expression conferring risk for Parkinsonism in North West India. 19734163 2010
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 Biomarker group BEFREE On careful review, we found the FBXO7 cases to have a phenotype more similar to PRKN gene associated parkinsonism. 20669327 2010
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation group BEFREE Although mutations in the parkin gene are frequently associated with familial Parkinsonism, emerging evidence suggests that parkin also plays a role in cancers as a putative tumor suppressor. 20630868 2010
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation group BEFREE The mutations in the parkin gene can lead to a loss of function of parkin and cause autosomal recessive juvenile onset parkinsonism. 20889974 2010
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.500 GeneticVariation group BEFREE Parkin gene mutations are the most common cause of early-onset parkinsonism. 20625164 2010