XBP1, X-box binding protein 1, 7494

N. diseases: 234; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.050 Biomarker disease BEFREE Here we report an integrative analysis of an expanded number of Crohn's disease (CD) related genetic defects in innate immune function (NOD2, ATG16L1, IRGM, CARD9, XBP1, ORMDL3) and composition of the ileal microbiome by combining the initial patient cohort (Batch 1, 2005-2010, n = 165) with a second consecutive patient cohort (Batch 2, 2010-2012, n = 118). 30818349 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.050 Biomarker disease BEFREE Genome-wide association studies have identified several genes implicated in autophagy (ATG16L1, IRGM, ULK1, LRRK2, and MTMR3), intracellular bacterial sensing (NOD2), and endoplasmic reticulum (ER) stress (XBP1 and ORMDL3) to be associated with Crohn disease (CD). 24247223 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.050 GeneticVariation disease BEFREE In silico analysis predicted rs4495224 and rs7720838 as essential parts of binding sites for the transcription factors NF-κB and XBP1 with higher binding scores for carriers of the CD risk alleles, providing an explanation of how these SNPs might contribute to increased PTGER4 expression. 23300802 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.050 GeneticVariation disease BEFREE Genes involved in the UPR (XBP1, ORMDL3) have also been genetically associated with Crohn's disease and ulcerative colitis. 21252204 2011
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.050 GeneticVariation disease BEFREE An association of XBP1 variants with both forms of human IBD (Crohn's disease and ulcerative colitis) was identified and replicated (rs35873774; p value 1.6 x 10(-5)) with novel, private hypomorphic variants identified as susceptibility factors. 18775308 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.050 GeneticVariation disease LHGDN An association of XBP1 variants with both forms of human IBD (Crohn's disease and ulcerative colitis) was identified and replicated (rs35873774; p value 1.6 x 10(-5)) with novel, private hypomorphic variants identified as susceptibility factors. 18775308 2008