PPT2, palmitoyl-protein thioesterase 2, 9374

N. diseases: 27; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1061808
rs1061808
Entrez Id: 9374;10554;80864;100532746
Gene Symbol: PPT2;AGPAT1;EGFL8;PPT2-EGFL8
PPT2;AGPAT1;EGFL8;PPT2-EGFL8
CUI: C0202177
Disease:
Phospholipid measurement 		0.800 GeneticVariation GWASDB Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. 22359512 2012
dbSNP: rs1061808
rs1061808
Entrez Id: 9374;10554;80864;100532746
Gene Symbol: PPT2;AGPAT1;EGFL8;PPT2-EGFL8
PPT2;AGPAT1;EGFL8;PPT2-EGFL8
CUI: C0202177
Disease:
Phospholipid measurement 		0.800 GeneticVariation GWASCAT Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. 22359512 2012
dbSNP: rs10947233
rs10947233
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C0034067
Disease:
Pulmonary Emphysema 		0.710 GeneticVariation BEFREE Among 7,914 participants, we identified regions at genome-wide significance for percent emphysema in or near SNRPF (rs7957346; P = 2.2 × 10(-8)) and PPT2 (rs10947233; P = 3.2 × 10(-8)), both of which replicated in an additional 6,023 individuals of European ancestry. 24383474 2014
dbSNP: rs10947233
rs10947233
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C0034067
Disease:
Pulmonary Emphysema 		T 0.710 GeneticVariation GWASDB Among 7,914 participants, we identified regions at genome-wide significance for percent emphysema in or near SNRPF (rs7957346; P = 2.2 × 10(-8)) and PPT2 (rs10947233; P = 3.2 × 10(-8)), both of which replicated in an additional 6,023 individuals of European ancestry. 24383474 2014
dbSNP: rs9267812
rs9267812
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C0005612
Disease:
Birth Weight 		T 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs1061808
rs1061808
Entrez Id: 9374;10554;80864;100532746
Gene Symbol: PPT2;AGPAT1;EGFL8;PPT2-EGFL8
PPT2;AGPAT1;EGFL8;PPT2-EGFL8
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs9267812
rs9267812
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs3134603
rs3134603
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C0026764
Disease:
Multiple Myeloma 		A 0.700 GeneticVariation GWASDB Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. 23955597 2013
dbSNP: rs3134950
rs3134950
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C1281901
Disease:
Fatty acid measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
dbSNP: rs3134950
rs3134950
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C0202177
Disease:
Phospholipid measurement 		A 0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
dbSNP: rs10947233
rs10947233
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs1269839
rs1269839
Entrez Id: 9374;10554;100532746
Gene Symbol: PPT2;AGPAT1;PPT2-EGFL8
PPT2;AGPAT1;PPT2-EGFL8
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs2849013
rs2849013
Entrez Id: 9374;80864;100532746
Gene Symbol: PPT2;EGFL8;PPT2-EGFL8
PPT2;EGFL8;PPT2-EGFL8
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs3096697
rs3096697
Entrez Id: 9374;80864;100532746
Gene Symbol: PPT2;EGFL8;PPT2-EGFL8
PPT2;EGFL8;PPT2-EGFL8
CUI: C0017665
Disease:
Membranous glomerulonephritis 		T 0.700 GeneticVariation GWASCAT Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. 21323541 2011
dbSNP: rs10947233
rs10947233
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C3160731
Disease:
Pulmonary function (finding) 		0.700 GeneticVariation GWASDB Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. 20010835 2010
dbSNP: rs10947233
rs10947233
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C0231921
Disease:
Pulmonary function 		0.700 GeneticVariation GWASDB Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. 20010835 2010
dbSNP: rs3096697
rs3096697
Entrez Id: 9374;80864;100532746
Gene Symbol: PPT2;EGFL8;PPT2-EGFL8
PPT2;EGFL8;PPT2-EGFL8
CUI: C0042900
Disease:
Vitiligo 		0.700 GeneticVariation GWASDB Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. 20526339 2010
dbSNP: rs3130347
rs3130347
Entrez Id: 9374;80864;100532746
Gene Symbol: PPT2;EGFL8;PPT2-EGFL8
PPT2;EGFL8;PPT2-EGFL8
CUI: C0042900
Disease:
Vitiligo 		0.700 GeneticVariation GWASDB Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. 20526339 2010
dbSNP: rs3134603
rs3134603
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C0026769
Disease:
Multiple Sclerosis 		0.700 GeneticVariation GWASDB Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis. 20598377 2010
dbSNP: rs2269425
rs2269425
Entrez Id: 9374;100507547;100532746
Gene Symbol: PPT2;LOC100507547;PPT2-EGFL8
PPT2;LOC100507547;PPT2-EGFL8
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
dbSNP: rs3096697
rs3096697
Entrez Id: 9374;80864;100532746
Gene Symbol: PPT2;EGFL8;PPT2-EGFL8
PPT2;EGFL8;PPT2-EGFL8
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
dbSNP: rs3134603
rs3134603
Entrez Id: 9374;100532746
Gene Symbol: PPT2;PPT2-EGFL8
PPT2;PPT2-EGFL8
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
dbSNP: rs1053924
rs1053924
Entrez Id: 9374;80863;100507547;100532746
Gene Symbol: PPT2;PRRT1;LOC100507547;PPT2-EGFL8
PPT2;PRRT1;LOC100507547;PPT2-EGFL8
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
dbSNP: rs2269425
rs2269425
Entrez Id: 9374;100507547;100532746
Gene Symbol: PPT2;LOC100507547;PPT2-EGFL8
PPT2;LOC100507547;PPT2-EGFL8
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
dbSNP: rs3096697
rs3096697
Entrez Id: 9374;80864;100532746
Gene Symbol: PPT2;EGFL8;PPT2-EGFL8
PPT2;EGFL8;PPT2-EGFL8
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007