PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		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
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.760 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		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
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		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
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		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
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.760 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		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
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.760 GeneticVariation disease BEFREE Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. 20619503 2012
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.760 CausalMutation disease CLINVAR Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. 20886109 2010
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		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
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		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
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		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
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.760 Biomarker disease GENOMICS_ENGLAND Neurodegeneration associated with genetic defects in phospholipase A(2). 18799783 2008
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.760 Biomarker disease GENOMICS_ENGLAND PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. 16783378 2006
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.760 GeneticVariation disease CLINVAR
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.760 GermlineCausalMutation disease ORPHANET
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.760 Biomarker disease CTD_human