Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE Interestingly, the endoplasmic reticulum aminopeptidase 1 (ERAP1) protein, well known for its aminopeptidase function as a "molecular ruler", trimming peptides prior to their loading onto MHC-I molecules for antigen presentation in the ER, has also been shown to be genetically associated with both autoinflammatory and autoimmune diseases. 30817945 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Natural killer (NK) cells are innate lymphocytes that are thought to kill cells that down-regulate MHC class I (MHC-I) through "missing-self" recognition. 30559128 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE HLA-C is the most recently evolved gene, and there is considerable evidence pointing to its emergence as a specialized KIR ligand playing a major role in the missing-self recognition system of NK cells. 30232844 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Regulation of major histocompatibility complex class II (MHC-II) expression is important not only to maintain a diverse pool of MHC-II-peptide complexes but also to prevent development of autoimmunity. 29378848 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Induction of MHC-mismatched but not -matched mixed chimerism by hematopoietic cell transplantation effectively reverses autoimmunity in diabetic nonobese diabetic (NOD) mice, even those with established diabetes. 29463744 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE Certain MHC-II or HLA-D alleles dominantly protect from particular autoimmune diseases. 28831005 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE In this study, we investigated the effects of age and gut dysbiosis on the development of CNS autoimmunity in humanized transgenic mice expressing the MS-associated MHC class II (MHC-II) gene, HLA-DR2a, and T-cell receptor (TCR) genes specific for MBP87-99/DR2a that were derived from an MS patient. 29078267 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 AlteredExpression group BEFREE This is the first study to address the role of an allelic variant in type I promoter of C2ta in MHC-II expression and autoimmune diseases; and shows that C2ta polymorphisms regulate MHC-II expression and T-cell responses but do not necessarily have a strong impact on autoimmune diseases. 27861821 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE HLA class I molecules play a role both in viral infection control and in autoimmune diseases development. rs9264942T>C polymorphism in HLA-C gene was found to impact on HLA-C surface expression level and to be associated with HIV-1 control. 24759677 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE In contrast, two-domain MHC-II structures with the same covalently attached self-peptide (recombinant T-cell receptor ligands (RTLs)) can regulate pathogenic CD4(+) T cells and reverse clinical signs of experimental autoimmune diseases. 21469129 2011
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Accumulating evidences indicate that killer cell immunoglobulin-like receptors (KIRs) and their corresponding specific HLA-C ligands contribute to the pathogenesis of multiple autoimmune diseases via the modulation of natural killer (NK) cell and T cell functions. 20652381 2010
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE HLA-Cw 06 was present in 29.79% of patients in the autoimmunity group and 15.38% of patients in the nonautoimmunity group (P = .049). 20549830 2010
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE On the other hand, by considering the contribution of non-MHC-related genes, similarities and differences among AID can be readily computed thus gaining insights into possible pathogenic mechanisms. 19896815 2009
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Recent studies have established that disease concordance in dizygotic twins is the same as that in siblings generally, for both T1D and the MHC-associated autoimmune disease gluten-sensitive enteropathy, leaving little room for a differential environmental trigger. 15342014 2004
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Class I and class II MHC-restricted T cells specific for proteins present in myelin have been shown to be involved in autoimmunity in the central nervous system (CNS). 15051763 2004
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Identification of MHC-restricted antigens and progress in the induction and control of adaptive cytotoxic immune responses have led to renewed interest in immunotherapy as a treatment for severe pathologies such as cancer and autoimmune diseases. 11861076 2002
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE Intra-MHC sequences including MHC class I chain-related genes (MICAs), D6S273 and D6S2223 are associated with autoimmune diseases in addition to HLA class II. 12392510 2002
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE These findings demonstrate the potential for human MHC class II haplotypes to function efficiently in transgenic mice and should provide valuable tools for developing humanized models of MHC-associated autoimmune diseases. 11884478 2002
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE These findings support a model in which self-MHC-derived peptide can modulate predisposition to autoimmune disease in humans. 11290778 2001
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE The genetics of complex autoimmune diseases: non-MHC susceptibility genes. 11526390 2001
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Development of autoimmunity and lupus nephritis in New Zealand (NZB x NZW)F1 mice, a model for human systemic lupus erythematosus (SLE), involves both MHC- and non-MHC-linked contributions. 10940893 2000
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE T lymphocytes constantly flirt with reactivity to self peptides, a price they pay for their ability to recognize foreign peptides presented by self-MHC molecules, and autoreactivity in the T compartment occasionally gives rise to autoimmune disease. 10450514 1999
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Therefore, they should be invaluable for engineering "humanized" mouse models of human MHC-II-associated autoimmune disorders. 10468609 1999
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Similar to other autoimmune models, mercury-induced autoimmunity requires cognate MHC-restricted T cell help. 9712044 1998
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE The location of the human TNF genes within the MHC complex has prompted much speculation about the role of TNF alleles in the etiology of MHC-associated autoimmune diseases. 7883593 1994