DisGeNET - a database of gene-disease associations

ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057519291

Entrez Id:	23400
Gene Symbol:	ATP13A2

ATP13A2

CUI:	C4310662
Disease:

SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057519291

Entrez Id:	23400
Gene Symbol:	ATP13A2

ATP13A2

CUI:	C4310662
Disease:

SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

dbSNP:

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

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

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

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

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

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

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

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

Entrez Id:	23400
Gene Symbol:	ATP13A2

ATP13A2

CUI:	C1847640
Disease:

KUFOR-RAKEB SYNDROME

0.800

CausalMutation

CLINVAR

dbSNP:

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

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

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:

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:

rs144701072

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:

rs144701072

Entrez Id:	23400
Gene Symbol:	ATP13A2

ATP13A2

CUI:	C1847640
Disease:

KUFOR-RAKEB SYNDROME

0.800

CausalMutation

CLINVAR

dbSNP:

rs144701072

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:

rs144701072

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:

rs144701072

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:

rs144701072

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:

rs144701072

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:

rs144701072

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:

rs144701072

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:

rs144701072

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