Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 In this cohort of Mexican patients with RA, we observed no association between the MHC2TA or FCRL3 genes and this autoimmune disease. 26350270 2016
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 AlteredExpression group BEFREE The CIITA gene is crucial for expression of class II HLA molecules and has previously been found to associate with several autoimmune diseases, including MS and type 1 diabetes. 24430172 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE Genome-wide association studies have revealed that the 16p13 chromosomal region, including CLEC16A, DEXI, CIITA and SOCS1, is associated with susceptibility to autoimmune diseases. 23151489 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE The major histocompatibility complex (MHC) class II transactivator (CIITA) gene has been reported to be an important candidate in some classical autoimmune diseases, and certain single nucleotide polymorphisms (SNPs) in CIITA have been confirmed to be associated with susceptibility to some autoimmune diseases. 23489895 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE A CIITA promoter single-nucleotide polymorphism (SNP), rs3087456 (-168 A/G), has indeed been associated with several autoimmune diseases, including rheumatoid arthritis (RA). 22513452 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Polymorphisms of the NACHT [neuronal apoptosis inhibitory protein (NAIP), CIITA, HET-E, TP1] and leucine-rich repeat protein 1 (NLRP1) gene are reported to be associated with susceptibility to vitiligo and several autoimmune diseases. 21331694 2011
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Our results seem to discard the influence in CD susceptibility of CIITA and KIAA0350 markers previously associated with other autoimmune diseases. 19317741 2009
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE A functional single nucleotide polymorphism (SNP) -168A-->G in the promoter region of the MHC2TA gene is suggested to have an influence on different autoimmune diseases. 18630461 2008
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE However, no evidence of association of this MHC2TA variant with the two autoimmune diseases could be subsequently detected in independent cohorts. 17012290 2007
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE The -168A-G polymorphism has been shown to influence transcription of the MHC2TA gene and has been implicated in several inflammatory/autoimmune disorders. 17661914 2007
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE The MHC2TA -168 A-->G single nucleotide polymorphism (rs3087456) has been suggested to confer susceptibility to some autoimmune diseases. 16849401 2006
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE The recently reported association in a northern population of the MHC2TA variation with these autoimmune diseases is not evident in the German population. 16426246 2006