Disease: Atypical Parkinsonism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4302185
Disease: Atypical Parkinsonism
Atypical Parkinsonism 		0.020 GeneticVariation disease BEFREE Retromer dysfunction is associated with neurodegenerative disease, and recently, three VPS26A mutations (p.K93E, p.M112V, and p.K297X) were discovered to be associated with atypical parkinsonism. 27528657 2016
CUI: C4302185
Disease: Atypical Parkinsonism
Atypical Parkinsonism 		0.020 GeneticVariation disease BEFREE Three VPS26A variants (p.K93E, p.M112V, and p.K297X), identified in patients with atypical parkinsonism, were not observed in controls from this study (n = 368) or from publically available data sets (n = 4,426). 25475142 2015