ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Disease: Atypical Parkinson Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868596
Disease: Atypical Parkinson Disease
Atypical Parkinson Disease 		0.020 Biomarker disease BEFREE Recent work tied <i>ATP13A2</i> to autophagy and other cellular features of neurodegeneration, but how ATP13A2 governs numerous cellular functions in PD pathogenesis is not understood. 30538141 2019
CUI: C1868596
Disease: Atypical Parkinson Disease
Atypical Parkinson Disease 		0.020 GeneticVariation disease BEFREE Finally, several clinical features can serve as red flags for specific forms of atypical PD including a supranuclear gaze palsy in ATP13A2 mutation carriers or hypoventilation linked to mutations in the DCTN1 gene. 31779813 2019