ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Disease: Young onset Parkinson disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.080 GeneticVariation disease BEFREE These results indicate that rare variants of PLA2G6 may contribute to PD susceptibility in Chinese population, the ATP13A2 might be associated with higher risk for sporadic EOPD, while the FBXO7 gene doesn't seem to be a risk factor to develop sporadic PD in Chinese population. 30232368 2018
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.080 AlteredExpression disease BEFREE Inactivation of ATP13A2, one of the four human P5B ATPases, leads to early-onset Parkinson's disease (Kufor-Rakeb Syndrome). 29547664 2018
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.080 GeneticVariation disease BEFREE Kufor-Rakeb syndrome (KRS)/PARK9 presents with autosomal recessive young onset Parkinson's disease (YOPD), spastic paraparesis, abnormal eye movements and facial myokymia. 29966207 2018
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.080 GeneticVariation disease BEFREE We present results of homozygosity mapping in two siblings affected with early onset Parkinson's disease (EOPD) and mutation screening of ATP13A2 in these and other Iranian EOPD patients. 24949580 2014
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.080 Biomarker disease BEFREE Our data provide insights into the molecular mechanisms of zinc dyshomeostasis in PD and its contribution to mitochondrial dysfunction with ATP13A2 as a molecular link between the two distinctive aetiological factors of PD. 24399444 2014
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.080 GeneticVariation disease BEFREE ATP13A2 variants in early-onset Parkinson's disease patients and controls. 19705361 2009
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.080 GeneticVariation disease BEFREE To assess the association of ATP13A2 gene mutation among patients with early onset Parkinson disease (EOPD, onset < 50 years) in ethnic Chinese population. 19015489 2008
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.080 GeneticVariation disease BEFREE ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. 17485642 2007