PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Disease: Autosomal Recessive Parkinsonism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Biomarker disease BEFREE PARK2 is an autosomal recessive parkinsonism caused by parkin gene mutations. 26626785 2017
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Therapeutic 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
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Biomarker disease CTD_human A recurrent mutation in PARK2 is associated with familial lung cancer. 25640678 2015
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Therapeutic disease CTD_human A recurrent mutation in PARK2 is associated with familial lung cancer. 25640678 2015
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		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
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Therapeutic 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
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		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
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE Parkin (PARK2) gene mutations are the predominant cause of autosomal recessive parkinsonism. 22445249 2012
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE Parkin (PARK2) gene mutations are the major cause of autosomal recessive parkinsonism. 18987353 2009
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE Mutations in PINK1 and PARK2 cause autosomal recessive parkinsonism, a neurodegenerative disorder that is characterized by the loss of dopaminergic neurons. 19684592 2009
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE Mutations of the Park2 gene cause autosomal recessive parkinsonism with neuropathological findings consistent with neurofibrillary tangles and tau immunoreactive lesions. 18022644 2008
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE Herein, we demonstrate the utility of this technique by rapidly identifying a disease causing microdeletion within the PARK2 gene in a family with autosomal recessive Parkinsonism. 17676595 2007
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Therapeutic disease CTD_human Parkin protects against neurotoxicity in the 6-hydroxydopamine rat model for Parkinson's disease. 16914382 2006
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Biomarker disease CTD_human Parkin protects against neurotoxicity in the 6-hydroxydopamine rat model for Parkinson's disease. 16914382 2006
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE Early-onset autosomal recessive parkinsonism is associated with parkin gene mutations. 15197707 2004
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE Mutations in the parkin gene are responsible for autosomal recessive parkinsonism. 14678753 2003
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Biomarker disease CTD_human Parkin disease: a phenotypic study of a large case series. 12764051 2003
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Therapeutic disease CTD_human Parkin disease: a phenotypic study of a large case series. 12764051 2003
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study. 12781588 2003
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE Parkin gene mutations have been detected in families with early-onset autosomal recessive parkinsonism. 12815654 2003
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE One early onset subject presented a mutation in the parkin gene consistent with autosomal recessive parkinsonism. 12548339 2002
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE Autosomal recessive parkinsonism associated with mutations in the parkin gene represents a monogenic form of hereditary parkinsonism. 11911988 2002
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE Parkin gene mutations are present in Spanish patients with early onset and/or an autosomal recessive parkinsonism. 12397156 2002
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		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
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE On the other hand, mutations in the parkin gene cause autosomal recessive parkinsonism of early onset. 11697518 2001