Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity. 31770611 2020
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE These results show STAT3 and NF-<i>κ</i>B as two important and complementary regulators of the tolerogenic behaviour of DCs, which should be considered as molecular targets in the design of DC-based suppressive immunotherapies for the treatment of autoimmune disorders. 31355296 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Activating heterozygous germline mutations in the signal transducer and activator of transcription 3 (<i>STAT3</i>) gene are associated with the rare autoimmune disorder autoimmune disease, multisystem, infantile onset (ADMIO). 31771449 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE STAT3 and STAT5 Targeting for Simultaneous Management of Melanoma and Autoimmune Diseases. 31569642 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 AlteredExpression group BEFREE STAT3 is a central member of the JAK/STAT signaling cascade and has long been recognized for its increased transcriptional activity in cancers and autoimmune disorders but has only recently been in the spotlight for its role in the progression of kidney disease. 30943069 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 AlteredExpression group BEFREE Signal transducer and activator of transcription 3 (STAT3) is constitutively activated in psoriatic skin inflammation and acts as a key player in the pathogenesis and progression of this autoimmune disease. 29949348 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect associated with multi-organ autoimmune disease and, in some cases, severe growth retardation. 29378236 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE IL-6/STAT3 pathway induced deficiency of RFX1 contributes to Th17-dependent autoimmune diseases via epigenetic regulation. 29422534 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Signal transducer and activator of transcription 3 (STAT3) has a crucial role in various autoimmune disorders including, inflammatory bowel disease (IBD). 30181918 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Reflecting the requirement of gp130-driven STAT3 signalling for gastric tumourigenesis, submucosal TLS development was also STAT3-dependent, but independent of the cytokine IL-17 which has been linked with lymphoid neogenesis in chronic inflammation and autoimmunity. 29417587 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Thus, our computational and experimental approach identified Fas as a regulator of the Th17-to-Th1 cell balance by controlling the availability of opposing STAT1 and STAT3 to have a direct impact on autoimmunity. 29562202 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE AT-rich interactive domain-containing protein 5a (Arid5a) is an RNA-binding protein (RBP) required for autoimmunity via stabilization of interleukin-6 (Il6) and signal transducer and activator of transcription 3 (STAT3) mRNAs. 29244194 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Germline STAT3 gain-of-function (GOF) mutations cause multiple endocrine and haematologic autoimmune disorders, lymphoproliferation, and growth impairment. 28253502 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Activating germline mutations in STAT3 were recently identified as a cause of neonatal diabetes mellitus associated with beta-cell autoimmunity. 28402852 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Job's (hyper IgE) syndrome or inflammatory bowel disease (IBD) have now established a clear-cut role for the IL-10/STAT3 axis in immune tolerance; further understanding of these processes could lead to novel therapeutic approaches for autoimmune diseases. 28631311 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Patients with germline STAT3 GOF mutations have an increased frequency of early-onset multiorgan autoimmunity (i.e. autoimmune enteropathy, type 1 diabetes mellitus, autoimmune interstitial lung disease and autoimmune cytopenias), lymphoproliferation, short stature and, less frequently, severe recurrent infections. 28914637 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 PosttranslationalModification group BEFREE Calcitriol, the active form of vitamin D, has been shown to decrease STAT1 and STAT3 phosphorylation in cancer cell lines and autoimmune disease mouse models. 27715403 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Nutritional control of IL-23/Th17-mediated autoimmune disease through HO-1/STAT3 activation. 28290522 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE These observations suggest that FRA1 and JUNB are associated closely with STAT3 activation, and that this activation leads to Th17 cell differentiation in autoimmune diseases and inflammation. 29326694 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE This case sheds light on the emerging role of signal transducer and activator of transcription 3 gain-of-function mutation in the pathogenesis of autoimmune diseases, and further addresses the therapeutic role of interleukin-6 blocker treatment in this syndrome. 28153428 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Germline STAT3 gain-of-function mutations have recently been identified in patients with an early-onset autoimmunity/lymphoproliferative syndrome. 26574998 2016
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE Our results broaden the spectrum of phenotypes caused by activating STAT3 mutations, highlight the role of STAT3 in the development and differentiation of multiple immune cell lineages, and strengthen the link between the STAT family of transcription factors and autoimmunity. 25349174 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Recently, germline, heterozygous mutations in STAT3 that confer a gain-of-function have been discovered and result in early-onset, multi-organ autoimmunity. 26280891 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 GeneticVariation group BEFREE Here, we report on 13 individuals from 10 families with lymphoproliferation and early-onset solid-organ autoimmunity associated with 9 different germline heterozygous mutations in STAT3. 25359994 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.400 Biomarker group BEFREE These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome. 25038750 2014