ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Disease: Atypical juvenile parkinsonism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4510873
Disease: Atypical juvenile parkinsonism
Atypical juvenile parkinsonism 		0.010 GeneticVariation disease BEFREE This family, the third reported with homozygous PARK9 mutations and the first with mutations in two genes for atypical juvenile parkinsonism, illustrates that PARK9-linked disease might display wide intra-familial clinical variability and milder phenotypes, suggesting the existence of strong, still unknown, modifiers. 20853184 2011