ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia
0.170 GeneticVariation disease BEFREE Mutations in ATP13A2 cause Kufor-Rakeb syndrome (KRS), a juvenile form of Parkinson's disease (PD) with dementia. 31393918 2019
CUI: C0497327
Disease: Dementia
Dementia
0.170 GeneticVariation disease BEFREE The importance of ATP13A2 (PARK9) in Parkinson's disease (PD) has emerged with the discovery that mutations in this gene cause Kufor-Rakeb syndrome, an autosomal recessive, juvenile-onset form of parkinsonism associated with the additional clinical triad of spasticity, supranuclear gaze palsy, and dementia. 25900096 2015
CUI: C0497327
Disease: Dementia
Dementia
0.170 GeneticVariation disease BEFREE Mutations in ATP13A2 (PARK9) cause Kufor-Rakeb syndrome (KRS) characterized by juvenile-onset parkinsonism, pyramidal signs and dementia. 24334770 2014
CUI: C0497327
Disease: Dementia
Dementia
0.170 Biomarker disease BEFREE Mutations in lysosomal membrane protein ATP13A2 (PARK9) cause familial Kufor-Rakeb syndrome characterized by early-onset parkinsonism, pyramidal degeneration and dementia. 22442086 2012
CUI: C0497327
Disease: Dementia
Dementia
0.170 GeneticVariation disease BEFREE Mutations in ATP13A2 (PARK9) cause an autosomal recessive form of early-onset parkinsonism with pyramidal degeneration and dementia called Kufor-Rakeb Syndrome (KRS). 22885599 2012
CUI: C0497327
Disease: Dementia
Dementia
0.170 GeneticVariation disease BEFREE Mutations in ATP13A2 (PARK9) have been linked to juvenile parkinsonism with dementia or Kufor-Rakeb syndrome (KRS). 21665991 2011
CUI: C0497327
Disease: Dementia
Dementia
0.170 GeneticVariation disease BEFREE Here, we describe loss-of-function mutations in a previously uncharacterized, predominantly neuronal P-type ATPase gene, ATP13A2, underlying an autosomal recessive form of early-onset parkinsonism with pyramidal degeneration and dementia (PARK9, Kufor-Rakeb syndrome). 16964263 2006
CUI: C0497327
Disease: Dementia
Dementia
0.170 Biomarker disease HPO