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 Therapeutic 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 A gene causing autosomal recessive parkinsonism of juvenile onset has been mapped to chromosome 6 (PARK 2), and the causative gene has been identified and named parkin. 11128611 2000
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Therapeutic disease CTD_human A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. 10894217 2000
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Biomarker disease CTD_human A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. 10894217 2000
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. 11193165 2000
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 GeneticVariation disease BEFREE We have analysed the 12 coding exons of the parkin gene in 35 mostly European families with early onset autosomal recessive parkinsonism. 10072423 1999
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Therapeutic disease CTD_human We have analysed the 12 coding exons of the parkin gene in 35 mostly European families with early onset autosomal recessive parkinsonism. 10072423 1999
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.400 Biomarker disease CTD_human We have analysed the 12 coding exons of the parkin gene in 35 mostly European families with early onset autosomal recessive parkinsonism. 10072423 1999