Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE This difference was confirmed in GESPIC with 73% of AS patients being HLA-C*07 negative compared to 50% of the controls (p < 0.0001); 59% of the nr-axSpA patients were HLA-C*07 negative. 30809016 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE HLA-B*40:02 is one of a few major histocompatibility complex class I (MHC-I) molecules associated with ankylosing spondylitis (AS) independently of HLA-B*27. 31530632 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE Other MHC-I-opathies include ankylosing spondylitis and HLA-B*27-associated spondyloarthropathies and HLA-C*0602-associated skin psoriasis. 28898393 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE Four inflammatory diseases are strongly associated with Major Histocompatibility Complex class I (MHC-I) molecules: birdshot chorioretinopathy (HLA-A<sup>*</sup>29:02), ankylosing spondylitis (HLA-B<sup>*</sup>27), Behçet's disease (HLA-B<sup>*</sup>51), and psoriasis (HLA-C<sup>*</sup>06:02). 30425713 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE Human Leukocyte Antigen C*12:02:02 and Killer Immunoglobulin-Like Receptor 2DL5 are Distinctly Associated with Ankylosing Spondylitis in the Taiwanese. 28812990 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE HLA-B27 is a class I major histocompatibility (MHC-I) allele that confers susceptibility to the rheumatic disease ankylosing spondylitis (AS) by an unknown mechanism. 28188227 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE Ankylosing spondylitis (AS) is an inflammatory disease strongly associated with the Major Histocompatibility Complex class I (MHC-I) allotype HLA-B*27. 28063628 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE KIR3DL1 interaction with HLA-B27 is altered by ankylosing spondylitis associated ERAP1 and enhanced by MHC class I cross-linking. 26321090 2016
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE These findings support the role of non-MHC pathogenic pathways in susceptibility to AS and warrants more comprehensive studies focusing on these non-MHC pathways for developing novel therapeutic strategies. 26590821 2016
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE This review will focus on the four major MHC-I-associated inflammatory disorders: ankylosing spondylitis, birdshot chorioretinopathy, Behçet's disease and psoriasis. 27522479 2016
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE An HLA-C amino-acid variant in addition to HLA-B*27 confers risk for ankylosing spondylitis in the Korean population. 26613595 2015
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE ERAP1 structure, function and pathogenetic role in ankylosing spondylitis and other MHC-associated diseases. 23916068 2014
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE Three risk loci shared with ankylosing spondylitis and psoriasis (the MHC class I region, ERAP1 and IL23R and the MHC class I-ERAP1 interaction), as well as two loci shared with inflammatory bowel disease (IL23R and IL10) implicate shared pathogenic pathways in the spondyloarthritides and Behçet's disease. 23291587 2013
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE An increasing number of non-MHC genetic associations have been reported, which provided amongst other things the first evidence of the involvement of the IL-23 pathway in AS. 23083754 2012
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE Meanwhile, individuals with AS showed an increased frequency of HLA-Cw*08 (p = 0.001, p (c)  = 0.008) compared with that in controls. 20652381 2010
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE In addition, the simultaneous presence of KIR2DS5 gene and HLA-C C1 allotype exhibited an even stronger protective effect on ankylosing spondylitis (p=0.0003, OR=0.35, CI=0.19-0.65), whereas a lack of KIR2DS5 and the presence of the HLA-C C2 allotype was associated with ankylosing spondylitis (p=0.0017, OR=1.92, CI=1.28-2.89), whereas a lack of KIR2DS5 and presence of C1 allotype was associated with rheumatoid arthritis (p=0.005, OR=1.47, CI=1.13-1.92). 20865034 2010
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE 200 random controls, 120 patients with AS and 175 HLA-B27 positive controls were genotyped for six single nucleotide polymorphisms (SNPs) spanning the HLA region between HLA-E and HLA-C loci previously shown to harbour an additional susceptibility locus for AS. 19912639 2009
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE The genotype 2DS1+/HLA-C lys(80)+ was more common in subjects with AS. 18297378 2008
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE To define the genetic basis of susceptibility to ankylosing spondylitis (AS), especially non-major histocompatibility complex (MHC) genes. 15248224 2004
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 Biomarker disease BEFREE These results strongly support the presence of non-MHC genetic-susceptibility factors in AS and point to their likely locations. 11231900 2001
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.100 GeneticVariation disease BEFREE The MICA-A4 was found to be in association with B*2705,02,03 and 08; MICA-A5 with B*2704 and B*2707 and MICA-A.5.1 with B*2706; (c) no significant differences of MICA alleles were found between AS and controls carrying the B27-associated alleles, and therefore no evidence is provided for an additional role of MICA gene in AS susceptibility; (d) there are a striking correlations between the structure of B27 extended haplotypes (from MICA region to HLA-C) and the ethnic distribution of these subtypes. 10717805 2000