rs765632065, ATP13A2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.700 GeneticVariation CLINVAR Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism. 22768177 2012
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.700 GeneticVariation CLINVAR Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death. 21665991 2011
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.700 GeneticVariation CLINVAR Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. 21060012 2010
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.700 GeneticVariation CLINVAR Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. 16964263 2006
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.700 CausalMutation CLINVAR