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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 AlteredExpression disease BEFREE Recently, overexpression of XBP-1 has been reported in breast cancer including non-invasive carcinomas, and was suggested to play an important role in breast carcinogenesis. 17352224 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE XBP1 and/or the UPR may be a useful molecular target for the development of novel predictive and therapeutic strategies in breast cancer. 17660348 2007
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 Biomarker disease BEFREE In a previous study, we suggested a possible link between XBP1 and bipolar disorder, but its role in neuronal cells has not yet been clarified. 16539657 2006
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease BEFREE A possible association between the -116C/G single nucleotide polymorphism of the XBP1 gene and lithium prophylaxis in bipolar disorder. 15927087 2006
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease BEFREE Recently, a polymorphism of the XBP1 gene (-116 C/G) was observed to play a significant role in the development of bipolar mood disorder from the Japanese population. 15892135 2005
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease BEFREE Recently, a polymorphism of XBP1, a pivotal gene in the endoplasmic reticulum (ER) stress response, was shown to contribute to the genetic risk factor for bipolar disorder. 16154272 2005
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease BEFREE Molecular genetics studies have already identified some candidate genes; for example, the BDNF, G72 and XBP1 genes, and chromosomal 'hot spots', which may confer a predisposition to development of bipolar disorder. 15948763 2005
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease BEFREE In order to test this hypothesis, we investigated a functional polymorphism -197C/G in XBP1, which was reported to increase the risk of bipolar disorder, in a case-control study (374 cases vs. 371 controls) to evaluate its genetic role in the pathogenesis of schizophrenia. 15184063 2004
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease BEFREE These negative findings suggest that the XBP1 C--116G polymorphism does not play a major role in the pathogenesis of bipolar disorders in Chinese populations. 15331160 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 AlteredExpression disease BEFREE About GATA3, HNF3A, and XBP1, three genes co-expressed with the oestrogen receptor-alpha gene (ESR1) in breast cancer. 15149721 2004
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 AlteredExpression disease LHGDN These results indicate that the -116C-->G polymorphism in XBP1 causes an impairment of its positive feedback system and increases the risk of bipolar disorder. 12949534 2003
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease BEFREE These results indicate that the -116C-->G polymorphism in XBP1 causes an impairment of its positive feedback system and increases the risk of bipolar disorder. 12949534 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE In order to clarify the role of XBP-1 in breast cancer, here we investigated the expression of XBP-1 in 11 primary breast cancers and 5 breast cancer cell lines. 14634507 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease UNIPROT
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.370 Biomarker disease BEFREE Importantly, in liver tissues obtained from patients with nonalcoholic fatty liver disease (NAFLD), the extent of XBP1s acetylation correlated positively with the NAFLD activity score but negatively with the Sirt6 level. 31541078 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.370 GeneticVariation disease BEFREE LncRNA NONMMUT010685 and NONMMUT050689, the regulator of XBP1 gene and RIPK1 gene respectively, played important roles in the development of NAFLD. 30466110 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.370 Biomarker disease BEFREE However, the role of XBP-1 in NAFLD remains relatively unexplored. 28278289 2017
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.370 Biomarker disease BEFREE Expression of TAp63, IKKβ and XBP1s is also increased in livers of obese patients with NAFLD. 28480888 2017
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.370 Biomarker disease BEFREE XBP1 target gene signatures were significantly induced in rodent liver fibrosis models (n = 3-5) and in human samples of non-alcoholic fatty liver disease (NAFLD) (n = 72-135). 27996033 2016
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.370 Biomarker disease BEFREE This study examines the role of XBP1 in nonalcoholic fatty liver injury and fatty acid-induced cell injury. 26472223 2015
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.370 Biomarker disease CTD_human The adaptive endoplasmic reticulum stress response to lipotoxicity in progressive human nonalcoholic fatty liver disease. 24097666 2014
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.370 Biomarker disease BEFREE Since excess fat accumulation in the liver could result from increased hepatic fatty acid synthesis, compounds that inhibit XBP1 activation may also be useful therapeutics for the treatment of human alcoholic liver disease (ALD) and nonalcoholic fatty liver disease (NAFLD), increasingly common causes of morbidity and mortality in the United States. 19751410 2009
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.360 Biomarker disease BEFREE Reactivation of XBP1s in mice lacking hepatic IRE1α restores COPII-mediated lipoprotein secretion and reverses the fatty liver and hypolipidemia phenotypes. 31123148 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.360 Biomarker disease BEFREE Collectively, we present direct evidence supporting the importance of XBP1 acetylation in ER stress-induced hepatic steatosis. 31541078 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.360 AlteredExpression disease BEFREE Regarding endoplasmic reticulum stress, X-Box binding protein-1 (XBP1) was upregulated in steatosis score ≥ 2 (P = 0.029) and correlated with plasma palmitate (r = 0.34; P = 0.035). 27689765 2017