PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
Disease: Young onset Parkinson disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.050 GeneticVariation disease BEFREE The aim of this study is to investigate the pathogenic mechanism of mutant (D331Y) PLA2G6-induced PD. 30088174 2019
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.050 GeneticVariation disease BEFREE Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations. 31493761 2019
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.050 Biomarker disease BEFREE PLA2G6 has been certified as a causative gene in patients with autosomal recessive early-onset Parkinson's disease (EOPD). 31496990 2019
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.050 GeneticVariation disease BEFREE These results indicate that rare variants of PLA2G6 may contribute to PD susceptibility in Chinese population, the ATP13A2 might be associated with higher risk for sporadic EOPD, while the FBXO7 gene doesn't seem to be a risk factor to develop sporadic PD in Chinese population. 30232368 2018
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.050 GeneticVariation disease BEFREE The nonsynonymous single-nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L-dopa-responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases. 21812034 2011