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 AlteredExpression disease BEFREE Nkx2-3 has been reported to be up-regulated in B cell lines and intestinal tissues from Crohn's disease patients and down-regulated in colorectal cancer. 20165982 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.400 AlteredExpression disease BEFREE Nkx2-3 gene variants are strongly associated with inflammatory bowel disease (IBD) and its expression is up-regulated in Crohn's disease (CD). 20188614 2010
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.020 GeneticVariation disease BEFREE NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients. 21049557 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.400 GeneticVariation disease BEFREE NKX2-3 rs10883365 variant allele was associated with increased risk for CD (P = 0.009, OR = 1.24, 95% CI = 1.06-1.48) and UC (P = 0.001, OR = 1.36, 95% CI = 1.13-1.63), whereas variant IRGM allele increased risk for CD (P = 0.029, OR = 1.36, 95% CI = 1.03-1.79). 21049557 2010
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 GeneticVariation disease BEFREE NKX2-3 rs10883365 variant allele was associated with increased risk for CD (P = 0.009, OR = 1.24, 95% CI = 1.06-1.48) and UC (P = 0.001, OR = 1.36, 95% CI = 1.13-1.63), whereas variant IRGM allele increased risk for CD (P = 0.029, OR = 1.36, 95% CI = 1.03-1.79). 21049557 2010
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.090 GeneticVariation group BEFREE NKX2-3 and IRGM are susceptibility loci for IBD in Eastern European patients. 21049557 2010
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
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: 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 Biomarker disease BEFREE A correlation with NKX2-3 and need for surgery (P  =  0.038), and with HLA and steroid-responsiveness (P  =  0.024) in UC patients was observed. 21818367 2011
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: 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: 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: 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 GeneticVariation disease BEFREE Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection. 18438405 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 Biomarker disease CTD_human Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection. 18438405 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 GeneticVariation disease LHGDN Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection. 18438405 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 Biomarker disease BEFREE An association between NKX2-3 and UC susceptibility was replicated and diverse evidence of epistasis in Japan was suggested. 19340882 2009
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.400 GeneticVariation disease BEFREE By contrast, variation in the gene encoding the interleukin-23 (IL-23) receptor subunit, as well as in the IL12B, STAT3 and NKX2-3 gene regions, is associated with both Crohn's disease and ulcerative colitis. 18500230 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 GeneticVariation disease BEFREE By contrast, variation in the gene encoding the interleukin-23 (IL-23) receptor subunit, as well as in the IL12B, STAT3 and NKX2-3 gene regions, is associated with both Crohn's disease and ulcerative colitis. 18500230 2008
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.090 GeneticVariation group BEFREE Consistent with epidemiologic predictions, many IBD-associated loci demonstrate genome-wide significant associations to both CD and UC, notably, genes whose products function in the interleukin-23 pathway, and transcription factors, including NK2 transcription factor related, locus 3 (NKX2-3), SMAD3, STAT3, ZMIZ1, and c-REL. 21530736 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 GeneticVariation disease BEFREE Consistent with epidemiologic predictions, many IBD-associated loci demonstrate genome-wide significant associations to both CD and UC, notably, genes whose products function in the interleukin-23 pathway, and transcription factors, including NK2 transcription factor related, locus 3 (NKX2-3), SMAD3, STAT3, ZMIZ1, and c-REL. 21530736 2011
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: 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