Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE Using a state-of-the-art imputation method to analyse the major histocompatibility complex (MHC) region, Ombrello and colleagues narrowed down the association between human leukocyte antigen (HLA)-B51 and Behçet's disease to a model of five amino acids of the HLA-B molecule involved in the binding of the antigen, the interactions with receptors on CD8 T cells and natural killer cells, and the signal peptide of HLA-B, suggesting a crucial role of the cellular cytotoxicity on this disease. 25405820 2015
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Although we were not able to formally replicate the association with IL10 and IL23R-IL12RB2, we do report that BD in Iran is strongly associated with HLA-B*51, MICA-A6, and the three HLA-linked SNPs (odds ratio (OR) = 3.38, P = 6.21 × 10(-14); OR = 2.08, P = 1.58 × 10(-13); and OR = 1.67-4.05, P = 1.45 × 10(-04) to 4.79 × 10(-34), respectively). 25940109 2015
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE In this Perspectives article, we describe how Behçet disease and several clinically distinct spondyloarthropathies-all associated with MHC class I (MHC-I) alleles such as HLA-B(*)51, HLA-C(*)0602 and HLA-B(*)27 and epistatic ERAP-1 interactions-have a shared immunopathogenetic basis. 26526644 2015
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Moreover, we need to determine allele-specific effects of ERAP1 variants in the context of HLA-B*51 and HLA-Cw*6, which are associated with Behçet's disease and psoriasis, respectively. 26002027 2015
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Behçet's disease (BD), a multi-organ inflammatory disorder, is associated with the presence of the human leukocyte antigen (HLA) HLA-B*51 allele in many ethnic groups. 26331842 2015
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE HLA-B*15, -B*27, -B*57, and -A*26 are independent risk factors for Behçet's disease, while HLA-B*49 and -A*03 are independent class I alleles that are protective for Behçet's disease. 26347074 2015
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Significant association of HLA-Bw4 with isoleucine at amino-acid position 80 (HLA-Bw4-80I) was found in the HLA-B*51(-) German cohort of BD patients [p(c) = 0.0042, OR = 2.35, 95% CI 1.41 to 3.93) and in the Turkish patients in comparison to the respective controls [p = 0.025, OR = 2.17, 95% CI 1.09 to 4.31]. 24887019 2014
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE Therefore, although they were not statistically significant, our data were consistent with an association between ERAP1 and BD as well as with an epistatic interaction between ERAP1 and HLA-B in the Spanish population. 25019531 2014
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE Instead, we mapped the BD association to seven MHC class I (MHC-I) amino acid residues, including anchor residues that critically define the selection and binding of peptides to MHC-I molecules, residues known to influence MHC-I-killer immunoglobulin-like receptor interactions, and a residue located in the signal peptide of HLA-B. 24821759 2014
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE In addition to HLA-B*51, HLA-B*57 was found as a risk factor in BD, whereas, B*35 was found to be protective. 24286189 2013
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Our data suggest that the robust HLA-B*51 association in Behçet's disease is explained by a variant located between the HLA-B and MICA genes (rs116799036: odds ratio (OR) = 3.88, P = 9.42 × 10(-50)). 23396137 2013
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease GWASDB Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease. 23041938 2013
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease CTD_human Identification of multiple independent susceptibility loci in the HLA region in Behçet's disease. 23396137 2013
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1. 23291587 2013
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE In Sardinia, the BD-associated HLA-B*5101 allele is inherited as part of two distinctive haplotypes differently distributed in patients and controls. 23021043 2013
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Microsatellite analysis revealed that the HLA-B*51 gene was strongly associated with Behçet's disease in a Korean population. 22258392 2012
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE According to our findings, the frequency of HLAB 51 was significantly higher in BD patients than in controls (p<0.001). 22560383 2012
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease GWASDB Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study. 23001997 2012
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE However, recent genome-wide association studies have confirmed that HLA-B*51 is primarily associated with BD and that there are multiple susceptibility loci other than HLA-B*51. 22042097 2012
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE There is no evidence supporting the use of HLA-B*51 as a diagnostic or prognostic marker for BD, and more clinical data must be collected in addition to basic immunological studies to exploit the potential of HLA-B*51 as a biomarker for BD management. 22188278 2012
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE However, they are associated with two different vasculitides (HLA-B*51 in Behçet's disease and HLA-B*52 in Takayasu's arteritis (TAK)) and with major clinical and immunological differences. 22309845 2012
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE Moreover, HLA-A*26, HLA-B*15, HLA-B*5701 and TNF-α -1031C were independently associated with BD. 21059670 2011
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE Recently, several HLA-A or -B alleles have been proposed as possible candidate genes for BD in addition to HLA-B*5101. 20868569 2011
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Since the identification of HLA-B*5101 (and more recently of MICA) as a susceptibility locus for BD, the identification of additional genetic locus/loci, whether inside, or perhaps more importantly outside the MHC has clearly stalled. 19684014 2010
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE TRIM39 and RNF39 are associated with Behçet's disease independently of HLA-B∗51 and -A∗26. 20875797 2010