Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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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 | ||||
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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 | ||||
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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 | ||||
|
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 | ||||
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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 | ||||
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0.170 | GeneticVariation | disease | BEFREE | Mutations in ATP13A2 (PARK9) have been linked to juvenile parkinsonism with dementia or Kufor-Rakeb syndrome (KRS). | 21665991 | 2011 | ||||
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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 | ||||
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0.170 | Biomarker | disease | HPO |