Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.080 Biomarker group BEFREE Differential diagnosis between drug-induced parkinsonism and PLA2G6-related dystonia-parkinsonism could be challenging. 29916839 2018
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.080 Biomarker group BEFREE PLAN syndrome encompasses a group of phenotypes with a different age of onset: classic infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy of childhood-onset (atypical NAD) and adult-onset PLA2G6-related dystonia-parkinsonism (PARK14). 28991683 2017
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.080 GeneticVariation group BEFREE Mutations in PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism complex (DPC). 27196560 2016
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.080 Biomarker group BEFREE Recent studies have shown that PLA2G6 is a causative gene for PARK14-linked autosomal recessive early-onset complicated dystonia-parkinsonism, early-onset parkinsonism with frontotemporal dementia and autosomal recessive early-onset Parkinsonism without added complicated clinical features. 22406380 2012
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.080 GeneticVariation group BEFREE We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. 20694531 2010
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.080 GeneticVariation group BEFREE Although the clinical presentation of PLA2G6-associated neurodegeneration was reported to be homogeneous, our findings suggest patients with PLA2G6 mutation could show heterogeneous phenotype such as dystonia-parkinsonism, dementia, frontotemporal atrophy/hypoperfusion, with or without brain iron accumulation. 20938027 2010
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.080 GeneticVariation group BEFREE R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family. 19087156 2009
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.080 GeneticVariation group BEFREE Characterization of PLA2G6 as a locus for dystonia-parkinsonism. 18570303 2009