ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519289
rs1057519289
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C4310662
Disease:
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519290
rs1057519290
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C4310662
Disease:
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057519291
rs1057519291
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C4310662
Disease:
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057519291
rs1057519291
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C4310662
Disease:
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057519292
rs1057519292
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C4310662
Disease:
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519293
rs1057519293
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C4310662
Disease:
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
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
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
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
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
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
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		0.800 GeneticVariation UNIPROT Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. 20853184 2011
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		0.800 GeneticVariation UNIPROT Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. 22388936 2012
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
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
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
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
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		0.800 GeneticVariation UNIPROT ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. 17485642 2007
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
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
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
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
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
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
dbSNP: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
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
dbSNP: rs12564040
rs12564040
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE The observed heterozygosities of the rs4538475 and rs11107 loci in PD and control groups ranged from 0.460 - 0.481 and 0.410 - 0.441, in BST1, PARK15 respectively, while we detected no heterozygosity at the rs12564040 locus in PARK9. 22490479 2012
dbSNP: rs1303653650
rs1303653650
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. 22388936 2012
dbSNP: rs1303653650
rs1303653650
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR ATP13A2 regulates mitochondrial bioenergetics through macroautophagy. 22198378 2012
dbSNP: rs1303653650
rs1303653650
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. 20683840 2010
dbSNP: rs1303653650
rs1303653650
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. 17485642 2007
dbSNP: rs1303653650
rs1303653650
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Correlation between the biochemical pathways altered by mutated parkinson-related genes and chronic exposure to manganese. 25149416 2014