Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Neither the BD-associated genetic risk locus within the HLA-B/MICA region nor being on immunosuppressive medications explained the differences between patients and controls. 27283393 2016
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE We found that the HLA-B*51 allele and the rs76546355/rs116799036 MHC SNP are independent genetic risk factors for BD in Iranian, and that positivity for the rs76546355/rs116799036 risk allele, but not for B*51, does correlate with specific demographic characteristics or clinical manifestations in BD patients. 25889189 2015
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE The repeated RPE analysis after separating HLA-B alleles carrying B51-KIR binding sequence as distinct alleles within a broad-type allele group revealed B*2702 allele as the only allele showing an association with BD after the deletion of B*51. 12209364 2002
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE These results suggest the possibility of a primary association of Behcet disease with MICA rather than HLA-B. 9037047 1997
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE The significant increase of HLA-A*2602 and B*3901 in the patient group without HLA-B*51 suggests that these two alleles might also have some secondary influence on the onset of BD. 16671946 2006
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE Thus, HLA-B*51 and HLA-Cw*16 seem to confer susceptibility to BD in this patients. 18627572 2008
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE The strong LD patterns between HLA-B and DR antigens in BD suggest that the susceptibility gene to BD could reside between the these two antigens. 9575677 1998
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE These results suggest that the pathogenic gene of BD is HLA-B51 itself and not other genes located in the vicinity of HLA-B. 11053265 2000
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Association of MICA gene and HLA-B*5101 with Behçet's disease in Greece. 10440244 1999
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE In this study, HLA-B*5101 gene from 37 individuals including Japanese, Turkish, Jordanian and Iranian patients and healthy controls were fully sequenced to further clarify the B*5101 gene in association with BD. 18700875 2008
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE Along with human leukocyte antigen gene encoding B*51 (HLA-B*51) and areas including the major histocompatibility complex class I, genome-wide association studies have recognized numerous other BD susceptibility genes including those encoding interleukin (IL)-10, IL-12 receptor β 2 (IL-12RB2), IL-23 receptor (IL-23R), C-C chemokine receptor 1 gene, signal transducer and activator of transcription 4 (STAT4), endoplasmic reticulum aminopeptidase (ERAP1), and genes encoding killer cell lectin-like receptor family members (KLRC4-KLRK1). 30341905 2019
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
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE Microsatellite polymorphism between the tumor necrosis factor and HLA-B genes in Behçet's disease. 7591872 1995
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE The role of the HLA-B*51 gene has been confirmed in recent years, although its contribution to the overall genetic susceptibility to Behçet's disease was estimated to be only 19%. 12723980 2003
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE The alterations in the nature and affinity of HLA-B*51·peptide complexes probably affect T-cell and natural killer cell recognition, providing a sound basis for the joint association of ERAP1 and HLA-B*51 with BD. 28446606 2017
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Both HLA-B*51 and MICA*009 are strongly associated with BD in a pure Caucasian BD patient group, and the two alleles are in linkage disequilibrium. 16101830 2005
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Our findings suggest that gene-gene interactions between HLA-B*51 and ERAP1 variants is important for BD development, however, ERAP1 variants which interact with HLA-B*51 may differ among disease phenotypes or populations. 30514861 2018
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE The prevalent distribution in a specific geographical area spanning the Mediterranean basin and Asia, the close association with human leukocyte antigen B*51 in different ethnic groups, and the familial clustering of BD are hallmarks accounting for the strong contribution of a genetic background. 16273774 2006
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 GeneticVariation disease BEFREE Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes. 30808881 2019
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE The Peptidome of Behçet's Disease-Associated HLA-B*51:01 Includes Two Subpeptidomes Differentially Shaped by Endoplasmic Reticulum Aminopeptidase 1. 26360328 2016
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE The rare TNF-2 polymorphism at the TNF -308 promoter position was associated with HLA-B*50 (not B*51), and was not associated with BD. 10519363 1999
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.700 Biomarker disease BEFREE Although it has been reported that the MHC class I molecule, HLA-B51, is a risk factor for Behçet's disease (BD), contribution of the tumor necrosis factor (TNF) genes, which are located in the vicinity of the HLA-B locus, to the genetic susceptibility for BD has yet to be elucidated. 15875188 2006
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 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