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: 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: rs121918227
rs121918227
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		G 0.800 CausalMutation CLINVAR
dbSNP: rs144701072
rs144701072
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777053
rs587777053
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		C 0.800 CausalMutation CLINVAR
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: 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: 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: 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: rs773246271
rs773246271
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C4310662
Disease:
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs773246271
rs773246271
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786205056
rs786205056
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		T 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: rs144701072
rs144701072
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: rs587777053
rs587777053
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: rs137853967
rs137853967
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		0.710 GeneticVariation UNIPROT Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. 16964263 2006
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: rs151117874
rs151117874
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		0.700 GeneticVariation UNIPROT 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 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: rs765632065
rs765632065
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease:
KUFOR-RAKEB SYNDROME 		A 0.700 GeneticVariation CLINVAR Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. 16964263 2006