ZPBP2, zona pellucida binding protein 2, 124626

N. diseases: 20; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004096
Disease: Asthma
Asthma 		0.180 GeneticVariation disease BEFREE Here, we tested the hypothesis that the zona pellucida-binding protein 2 (ZPBP2) gene residing in this region contributes to asthma pathogenesis using a mouse model. 29536159 2018
CUI: C0004096
Disease: Asthma
Asthma 		0.180 AlteredExpression disease BEFREE Chromosomal region 17q12-q21 is associated with asthma and harbors regulatory polymorphisms that influence expression levels of all five protein-coding genes in the region: IKAROS family zinc finger 3 (Aiolos) (IKZF3), zona pellucida binding protein 2 (ZPBP2), ORMDL sphingolipid biosynthesis regulator 3 (ORMDL3), and gasdermins A and B (GSDMA, GSDMB). 28241063 2017
CUI: C0004096
Disease: Asthma
Asthma 		0.180 GeneticVariation disease BEFREE The first GWAS was published in 2007, and described a new locus associated to asthma in chromosome 17q12-q21, involving the ORMDL3, GSDMB and ZPBP2 genes (a description of the genes named in the manuscript are listed in Table 1). 25433770 2016
CUI: C0004096
Disease: Asthma
Asthma 		0.180 GeneticVariation disease BEFREE We evidenced a new locus in the 16q12 region (near cylindromatosis turban tumor syndrome gene [CYLD]) and confirmed 4 asthma risk regions: 2q12 (IL-1 receptor-like 1 [IL1RL1]), 6p21 (HLA-DQA1), 9p24 (IL33), and 17q12-q21 (zona pellucida binding protein 2 [ZPBP2]-gasdermin A [GSDMA]). 27130862 2016
CUI: C0004096
Disease: Asthma
Asthma 		0.180 PosttranslationalModification disease BEFREE The local genotype influences methylation levels at SLC22A5 and ZPBP2 promoters independently of the asthma status. 26671913 2016
CUI: C0004096
Disease: Asthma
Asthma 		0.180 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0004096
Disease: Asthma
Asthma 		0.180 GeneticVariation disease BEFREE Combined with the results of the present work, these data converge pointing to the same 5 kb region within the ZPBP2 gene as a critical region for both gene expression regulation and predisposition to asthma. 23546690 2013
CUI: C0004096
Disease: Asthma
Asthma 		0.180 GeneticVariation disease BEFREE We found that a single nucleotide polymorphism rs4795397 influences the activity of ZPBP2 promoter in vitro in an allele-dependent fashion, and also leads to nucleosome repositioning on the asthma-associated allele. 22271045 2012
CUI: C0004096
Disease: Asthma
Asthma 		0.180 GeneticVariation disease GWASDB Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. 21804549 2011
CUI: C0004096
Disease: Asthma
Asthma 		0.180 GeneticVariation disease GWASDB A large-scale, consortium-based genomewide association study of asthma. 20860503 2010
CUI: C0004096
Disease: Asthma
Asthma 		0.180 GeneticVariation disease BEFREE Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. 19732864 2009
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.110 GeneticVariation disease BEFREE Here, we show an efficient approach for identification of a functional variant in a primary biliary cholangitis (PBC)-susceptible region, chromosome 17q12-21 (ORMDL3-GSDMB-ZPBP2-IKZF3). 28588209 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.110 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.110 Biomarker disease BEFREE The susceptibility allele was also associated with the increased expression of GSDMA (P = 1.6 × 10(-4)) and LRRC3C (P = 7.8 × 10(-6)) in colon tissue from individuals without IBD and with the reduced expression of PGAP3 (IBD; P = 2.0 × 10(-3)) and ZPBP2 (Crohn's disease; P = 7.7 × 10(-4)) in noninflamed ileum. 26484354 2015
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.110 GeneticVariation disease GWASDB Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants. 22936693 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.110 GeneticVariation disease GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.100 GeneticVariation disease GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.100 GeneticVariation disease GWASCAT Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. 30013184 2018
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.100 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.100 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016