NKX2-3, NK2 homeobox 3, 159296

N. diseases: 22; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.400 GeneticVariation disease BEFREE SNPs rs72553867 (IRGM gene), rs4409764 (NKX2-3 gene), and rs3731772 (AOX1 gene) increase the risk of pCD. 31844038 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.090 AlteredExpression group BEFREE Nkx2-3 as a transcriptional regulator of MAdCAM-1 controls vascular patterning in visceral lymphoid tissues in mice, and has been identified as a susceptibility factor for inflammatory bowel diseases in humans, associated with lymphoid neogenesis in the inflamed intestines. 30891037 2019
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.010 GeneticVariation disease BEFREE Ectopic overexpression of 10 NKL genes, of which six are unreported in T-ALL (NKX2-3, BARHL1, BARX2, EMX2, LBX2 and MSX2), was detectable in 17/104 (16%) T-ALLs. 28592888 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE Here we show that NKX2-3 is overexpressed in tumour cells from a subset of patients with marginal-zone lymphomas, but not with other B-cell malignancies. 27297662 2016
CUI: C0023418
Disease: leukemia
leukemia 		0.010 Biomarker disease BEFREE All together, our study defined a unique lncRNA expression signature associated with ETV6/RUNX1-positive BCP-ALL and identified lnc-RTN4R-1 and lnc-NKX2-3-1 as lncRNAs that might be functionally implicated in the biology of this prevalent subtype of human leukemia. 27650541 2016
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 AlteredExpression group BEFREE While Nkx2-3-deficient mice exhibit the absence of marginal-zone B cells, transgenic mice with expression of NKX2-3 in B cells show marginal-zone expansion that leads to the development of tumours, faithfully recapitulating the principal clinical and biological features of human marginal-zone lymphomas. 27297662 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE While Nkx2-3-deficient mice exhibit the absence of marginal-zone B cells, transgenic mice with expression of NKX2-3 in B cells show marginal-zone expansion that leads to the development of tumours, faithfully recapitulating the principal clinical and biological features of human marginal-zone lymphomas. 27297662 2016
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.010 Biomarker disease BEFREE This study implicates oncogenic NKX2-3 in lymphomagenesis, and provides a valid experimental mouse model for studying the biology and therapy of human marginal-zone B-cell lymphomas. 27297662 2016
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		0.010 AlteredExpression disease BEFREE There was 1 significantly down-regulated gene, NKX2-3 in patients with POP compared to the controls (p=4.28464e-013). 27521992 2016
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 Biomarker disease BEFREE All together, our study defined a unique lncRNA expression signature associated with ETV6/RUNX1-positive BCP-ALL and identified lnc-RTN4R-1 and lnc-NKX2-3-1 as lncRNAs that might be functionally implicated in the biology of this prevalent subtype of human leukemia. 27650541 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.400 GeneticVariation disease BEFREE We confirmed 6 previously reported loci in Caucasian: GPR35 at 2q37 (rs3749172; P = 5.30 × 10, odds ratio [OR] = 1.45), ZNF365 at 10q21 (rs224143; P = 2.20 × 10, OR = 1.38), ZMIZ1 at 10q22 (rs1250569; P = 3.05 × 10, OR = 1.30), NKX2-3 at 10q24 (rs4409764; P = 7.93 × 10, OR = 1.32), PTPN2 at 18p11 (rs514000; P = 9.00 × 10, OR = 1.33), and USP25 at 21q11 (rs2823256; P = 2.49 × 10, OR = 1.35), bringing the number of known CD loci (including 3 in the HLA) in Koreans to 15. 25489960 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 GeneticVariation disease BEFREE To generate large-scale evidence on whether NKX2-3 polymorphisms are associated with CD or UC susceptibility we have conducted a meta-analysis of 17 studies involving 17329 patients and 18029 controls. 24473197 2014
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 GeneticVariation disease BEFREE We confirmed that the NKX2-3 polymorphism is associated with common susceptibility to IBD and that HLA-DRB1*0450 alleles increase susceptibility to CD but reduce risk for UC while HLA-DRB1*1502 alleles increase susceptibility to UC but reduce CD risk. 23942620 2014
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.400 GeneticVariation disease BEFREE To generate large-scale evidence on whether NKX2-3 polymorphisms are associated with CD or UC susceptibility we have conducted a meta-analysis of 17 studies involving 17329 patients and 18029 controls. 24473197 2014
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.400 GeneticVariation disease BEFREE We confirmed that the NKX2-3 polymorphism is associated with common susceptibility to IBD and that HLA-DRB1*0450 alleles increase susceptibility to CD but reduce risk for UC while HLA-DRB1*1502 alleles increase susceptibility to UC but reduce CD risk. 23942620 2014
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.090 GeneticVariation group BEFREE Contribution of NKX2-3 polymorphisms to inflammatory bowel diseases: a meta-analysis of 35358 subjects. 24473197 2014
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.090 GeneticVariation group BEFREE We confirmed that the NKX2-3 polymorphism is associated with common susceptibility to IBD and that HLA-DRB1*0450 alleles increase susceptibility to CD but reduce risk for UC while HLA-DRB1*1502 alleles increase susceptibility to UC but reduce CD risk. 23942620 2014
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 GeneticVariation disease BEFREE We found 14 SNPs tagging 9 loci, including 21q21.1, NKX2-3, MST1, the HLA region, 1p36.13, IL10, JAK2, ORMDL3, and IL23R, to be associated with UC. 23974994 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 AlteredExpression disease BEFREE A positive correlation was observed between mRNA expression of PTPN2 and NKX2-3 in B cells and in intestinal tissues from both CD and UC patients. 22377701 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 Biomarker disease BEFREE NKX2-3 may play different roles in UC and CD pathogenesis by differential regulation of EGR1. 21968973 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.400 Biomarker disease BEFREE NKX2-3 may play different roles in UC and CD pathogenesis by differential regulation of EGR1. 21968973 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.400 AlteredExpression disease BEFREE A positive correlation was observed between mRNA expression of PTPN2 and NKX2-3 in B cells and in intestinal tissues from both CD and UC patients. 22377701 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.400 Biomarker disease BEFREE We found strong evidence of CD-association for 195 genes, identifying novel susceptibility genes (e.g., ISX, SLCO6A1, TMEM183A) as well as confirming many previously identified susceptibility genes in CD GWAS (e.g., IL23R, NOD2, CYLD, NKX2-3, IL12RB2, ATG16L1). 23071489 2012
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.090 GeneticVariation group BEFREE We speculate that the rs11190140 may regulate NKX2-3 expression and have a role in IBD pathogenesis. 21803625 2012
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.020 GeneticVariation disease BEFREE NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT. 21803625 2012