PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5756931
rs5756931
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0202236
Disease:
Triglycerides measurement 		T 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs2284063
rs2284063
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542 2017
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: rs2277844
rs2277844
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0202236
Disease:
Triglycerides measurement 		A 0.800 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
dbSNP: rs121908682
rs121908682
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0270724
Disease:
Infantile Neuroaxonal Dystrophy 		0.800 GeneticVariation UNIPROT Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. 23749988 2013
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: rs5756931
rs5756931
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs5756931
rs5756931
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs2277844
rs2277844
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0202236
Disease:
Triglycerides measurement 		0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs738322
rs738322
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0027960
Disease:
Nevus 		G 0.800 GeneticVariation GWASDB Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk. 21478494 2011
dbSNP: rs738322
rs738322
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0027960
Disease:
Nevus 		G 0.800 GeneticVariation GWASCAT Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk. 21478494 2011
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: rs5756931
rs5756931
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs5756931
rs5756931
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 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: rs2284063
rs2284063
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation GWASCAT Genome-wide association study identifies three loci associated with melanoma risk. 19578364 2009
dbSNP: rs2284063
rs2284063
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0027960
Disease:
Nevus 		G 0.800 GeneticVariation GWASDB Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. 19578365 2009
dbSNP: rs2284063
rs2284063
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation GWASDB Genome-wide association study identifies three loci associated with melanoma risk. 19578364 2009
dbSNP: rs2284063
rs2284063
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0027960
Disease:
Nevus 		G 0.800 GeneticVariation GWASCAT Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. 19578365 2009
dbSNP: rs121908681
rs121908681
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C1857747
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		0.800 GeneticVariation UNIPROT PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. 16783378 2006
dbSNP: rs121908682
rs121908682
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0270724
Disease:
Infantile Neuroaxonal Dystrophy 		0.800 GeneticVariation UNIPROT PLA2G6 mutation underlies infantile neuroaxonal dystrophy. 17033970 2006
dbSNP: rs121908682
rs121908682
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0270724
Disease:
Infantile Neuroaxonal Dystrophy 		0.800 GeneticVariation UNIPROT PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. 16783378 2006