ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis. 29859891 2018
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease BEFREE Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction. 28137957 2017
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction. 28137957 2017
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 GermlineCausalMutation disease ORPHANET Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name? 29112700 2017
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction. 28137957 2017
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 GermlineCausalMutation disease ORPHANET Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction. 28137957 2017
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339 2016
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 GermlineCausalMutation disease ORPHANET Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339 2016
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. 27165006 2016
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339 2016
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease CLINVAR Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). 21696388 2012
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease CLINVAR Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. 16964263 2006
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 CausalMutation disease CLINVAR
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease CTD_human