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: 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: 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
dbSNP: rs1303653650
rs1303653650
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. 21060012 2010
dbSNP: rs1303653650
rs1303653650
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. 20853184 2011
dbSNP: rs1303653650
rs1303653650
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review. 25197640 2014
dbSNP: rs1303653650
rs1303653650
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death. 21665991 2011
dbSNP: rs1303653650
rs1303653650
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. 16964263 2006
dbSNP: rs150519745
rs150519745
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		T 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs199624796
rs199624796
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587776890
rs587776890
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs749798211
rs749798211
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		C 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs758014228
rs758014228
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		C 0.700 GeneticVariation CLINVAR Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). 21696388 2012
dbSNP: rs758014228
rs758014228
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C4310662
Disease:
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		C 0.700 GeneticVariation CLINVAR Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. 16964263 2006
dbSNP: rs758014228
rs758014228
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		C 0.700 GeneticVariation CLINVAR Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. 16964263 2006
dbSNP: rs758014228
rs758014228
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C4310662
Disease:
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		C 0.700 GeneticVariation CLINVAR Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). 21696388 2012
dbSNP: rs762033589
rs762033589
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		GTC 0.700 CausalMutation CLINVAR
dbSNP: rs765632065
rs765632065
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs765632065
rs765632065
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		A 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
dbSNP: rs765632065
rs765632065
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		A 0.700 GeneticVariation CLINVAR Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. 21060012 2010
dbSNP: rs765632065
rs765632065
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		A 0.700 GeneticVariation CLINVAR Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism. 22768177 2012