PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908687
rs121908687
Entrez Id: 8398;80115
Gene Symbol: PLA2G6;BAIAP2L2
PLA2G6;BAIAP2L2
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs121908686
rs121908686
Entrez Id: 8398;80115
Gene Symbol: PLA2G6;BAIAP2L2
PLA2G6;BAIAP2L2
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs121908687
rs121908687
Entrez Id: 8398;80115
Gene Symbol: PLA2G6;BAIAP2L2
PLA2G6;BAIAP2L2
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
dbSNP: rs121908687
rs121908687
Entrez Id: 8398;80115
Gene Symbol: PLA2G6;BAIAP2L2
PLA2G6;BAIAP2L2
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. 20886109 2010
dbSNP: rs121908686
rs121908686
Entrez Id: 8398;80115
Gene Symbol: PLA2G6;BAIAP2L2
PLA2G6;BAIAP2L2
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Characterization of PLA2G6 as a locus for dystonia-parkinsonism. 18570303 2009
dbSNP: rs121908687
rs121908687
Entrez Id: 8398;80115
Gene Symbol: PLA2G6;BAIAP2L2
PLA2G6;BAIAP2L2
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Characterization of PLA2G6 as a locus for dystonia-parkinsonism. 18570303 2009
dbSNP: rs121908687
rs121908687
Entrez Id: 8398;80115
Gene Symbol: PLA2G6;BAIAP2L2
PLA2G6;BAIAP2L2
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Characterization of PLA2G6 as a locus for dystonia-parkinsonism. 18570303 2009
dbSNP: rs121908686
rs121908686
Entrez Id: 8398;80115
Gene Symbol: PLA2G6;BAIAP2L2
PLA2G6;BAIAP2L2
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908686
rs121908686
Entrez Id: 8398;80115
Gene Symbol: PLA2G6;BAIAP2L2
PLA2G6;BAIAP2L2
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs121908687
rs121908687
Entrez Id: 8398;80115
Gene Symbol: PLA2G6;BAIAP2L2
PLA2G6;BAIAP2L2
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs199935023
rs199935023
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation 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
dbSNP: rs199935023
rs199935023
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		A 0.710 CausalMutation CLINVAR
dbSNP: rs121908680
rs121908680
Entrez Id: 8398;80115
Gene Symbol: PLA2G6;BAIAP2L2
PLA2G6;BAIAP2L2
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387906864
rs387906864
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs750939090
rs750939090
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs774631197
rs774631197
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C2751842
Disease:
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR