Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 GeneticVariation disease BEFREE PARK14 patients with homozygous (D331Y) PLA2G6 mutation display motor deficits of pure early-onset Parkinson's disease (PD). 30088174 2019
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 GeneticVariation disease BEFREE PARK14 mutant (D331Y), (G517C), (T572I), (R632W), (N659S) or (R741Q) PLA2G6 failed to prevent rotenone-induced activation of mitochondrial apoptotic pathway and exert a neuroprotective effect. 29108286 2017
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 Biomarker disease 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 		0.760 GeneticVariation disease BEFREE To find new keys to this incurable neurodegenerative disorder we focused on the poorly understood PARK14 disease locus (Pla2g6 gene) and the store-operated Ca(2+) signalling pathway. 26755131 2016
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 Biomarker disease BEFREE Mutated PLA2G6 causes PLA2G6-associated neurodegeneration (PLAN) including infantile neuroaxonal dystrophy (INAD) and adult-onset dystonia-parkinsonism (PARK14), which have unique clinical phenotypes. 25950622 2015
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 GeneticVariation disease BEFREE Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. 20619503 2012
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 CausalMutation disease CLINVAR Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. 20886109 2010
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 GeneticVariation disease UNIPROT Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging. 18570303 2009
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 Biomarker disease GENOMICS_ENGLAND Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging. 18570303 2009
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 CausalMutation disease CLINVAR Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging. 18570303 2009
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 Biomarker disease GENOMICS_ENGLAND Neurodegeneration associated with genetic defects in phospholipase A(2). 18799783 2008
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 Biomarker disease GENOMICS_ENGLAND PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. 16783378 2006
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 GeneticVariation disease CLINVAR
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 GermlineCausalMutation disease ORPHANET
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.760 Biomarker disease CTD_human
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.010 GeneticVariation disease BEFREE Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. 29861155 2018