rs121918227, ATP13A2

N. diseases: 2
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
0.800 GeneticVariation UNIPROT Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). 28137957 2017
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.800 GeneticVariation UNIPROT Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. 22388936 2012
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.800 GeneticVariation UNIPROT ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. 22296644 2012
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.800 GeneticVariation UNIPROT 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
0.800 GeneticVariation UNIPROT Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. 21542062 2011
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.800 GeneticVariation UNIPROT Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. 20853184 2011
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.800 GeneticVariation UNIPROT Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. 20683840 2010
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.800 GeneticVariation UNIPROT PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. 18413573 2008
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.800 GeneticVariation UNIPROT ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. 17485642 2007
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
0.800 GeneticVariation UNIPROT 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
0.800 CausalMutation CLINVAR
Parkinsonism, Juvenile
CUI: C0752105
Disease: Parkinsonism, Juvenile
0.010 GeneticVariation BEFREE A novel homozygous missense mutation (Gly504Arg) was identified in one sporadic case from Brazil with juvenile parkinsonism. 17485642 2007