Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.310 Biomarker 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
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.310 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
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.310 Biomarker disease GENOMICS_ENGLAND Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339 2016
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.310 Biomarker disease GENOMICS_ENGLAND Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. 27165006 2016