Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker disease BEFREE In addition, DRB1*14 was demonstrated to be a second independent variants (P = 4.2 × 10<sup>-63</sup> , OR = 35.47) for PV, while DRB1*04:06 was demonstrated to be the second independent signal (P = 7.44 × 10<sup>-13</sup> , OR = 5.58) for PF. 30169916 2019
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker disease BEFREE HLA-DQB1*05:03 ranks at the top (P = 4·7 × 10<sup>-40</sup> ; odds ratio 12·4) in both subtypes, with significantly different risk allele frequency (RAF<sub>PV</sub> = 34·2% vs. RAF<sub>PF</sub> = 18·8% vs. RAF<sub>control</sub> = 4·4%), whereas HLA-DRB1*14:01 and HLA-DRB1*04:06 are PV specific. 30230522 2019
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker disease BEFREE There was a significant association between HLA-DRB1*14 and HLA-DQB1*05 and pemphigus vulgaris in our patients. 29582787 2018
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE A fine-mapping analysis of PV risk in the major histocompatibility complex region showed three independent variants predisposed to PV using stepwise analysis: HLA-DRB1*14:04 (P = 2.47 × 10<sup>-38</sup>, odds ratio = 6.28), rs7454108 at the TAP2 gene (P = 2.78 × 10<sup>-12</sup>, odds ratio = 3.25), and rs1051336 at the HLA-DRA gene (P = 3.06 × 10<sup>-6</sup>, odds ratio = 0.33). 29857070 2018
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE Patients that carry both the PV-associated human leukocyte antigen (HLA) alleles DRB1*0402 and DQB1*0503, or DQB1*0503 alone show a low prevalence of anti-TPO (A.R. 29675021 2018
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE There is a close immunogenetic association of PV with the human leukocyte antigen (HLA) class II alleles, HLA-DRB1*04:02 and HLA-DQB1*05:03. 29313220 2018
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE The DRB1*04:02 and DQB1*05:03 alleles are associated with pemphigus vulgaris in our study as well as in various populations. 28197992 2017
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE Interestingly, while <i>HLA-DRB1*04:02</i> confers susceptibility to PV, this and other alleles that encode the same sequence motif in the 70-74 region of the DR beta chain are protective against RA. 27814654 2017
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE Subjects were typed for HLA class II DRB1 and DQB1 alleles, and categorized as HLA-matched if homozygous or heterozygous for either one of the known PV-susceptibility alleles, DRB1*0402 and DQB1*0503. 28174139 2017
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker disease BEFREE DRB1*04:02, DRB1*14:04, DQB1*03:02 and DQB1*05:03 alleles were shown to be strongly associated with PV (P adj = 1.63 × 10(-12), 5.20 × 10(-7), 1.28 × 10(-6), and 4.44 × 10(-5), respectively). 27072514 2016
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker disease BEFREE Their parents and five siblings had only one or none of these two haplotypes in combination with the alleles or haplotypes associated with resistance to PV (DRB1∗07:01-DQA1∗02:01-DQB1∗02:02 and DRB1∗13:01-DQA1∗01:03-DQB1∗06:03). 27177496 2016
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker disease BEFREE Taking advantage of an area where pemphigus foliaceus (PF) and pemphigus vulgaris (PV) are prevalent in the northeastern region of the state of São Paulo, Southeastern Brazil, we have studied the HLA class I (A, B and C) and class II (DRB1 and DQA1/DQB1) profiles in 86 and 83 patients with PF and PV, respectively, as compared with 1592 controls from the same region. 27178774 2016
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE The HLA DRB1* and DQB1* alleles influence susceptibility to PV and may contribute to PV severity and type. 24602055 2015
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker disease BEFREE We show that CD4(+) T cells recognizing immunodominant Dsg3 epitopes in the context of the PV-associated HLA-DRB1*04:02 induce the secretion of Dsg3-specific IgG in vivo. 25252957 2014
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker disease BEFREE The occurrence of PV is positively associated with HLA-DRB1*14 and HLA-DRB1*0402 but negatively associated with HLA-DRB1*11 in the Syrian population. 24697292 2014
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker disease BEFREE We confirmed the previously reported associations between HLA class II alleles and PV and described a new association between PV and DRB1*14:54. 23551624 2013
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker disease BEFREE Our findings suggest that DRB1*04, DRB1*08 and DRB1*14 are statistically significant susceptibility factors for PV. 22564118 2012
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease GWASDB Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris. 22437316 2012
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE These results indicate that an HLA-DRB1*1405 (DQB1*0503) haplotype may confer susceptibility to both PV and PF, and that genetic susceptibility alone is not always responsible for the clinical phenotype and autoantibody profile. 21352303 2011
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE Our findings suggest that HLA DRB1*04 and DRB1*14 alleles, and HLA DRB1*04/DQB1*03 and HLA DRB1*14/DQB1*05 haplotypes are genetic markers for general susceptibility to PV in the Turkish population. 20507388 2010
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 AlteredExpression disease BEFREE Genetic factors are involved in the occurrence of PV; HLA-DRB1*04 and -DRB1*1401 alleles and the related haplotypes are suggestive to be two major PV susceptibility factors in our population study. 18780165 2009
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE Our results support the hypothesis that the DRB1*0402 without DQB1*0302 is the most relevant HLA-DRB1 allele responsible for the pathogenesis of pemphigus in Venezuelan patients with PV and discard the DQB1*0302 influence observed in other populations. 17389015 2007
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker disease BEFREE Studies showed that the associated HLA haplotype in Jewish pemphigus vulgaris (PV) patients is HLA-B38, DRB1*0402, and DQB1*0302; or HLA-B35, DRB1*0402, and DQB1*0302. 15009804 2004
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE The DR and DQ molecular alleles positively associated with PV were two different haplotypes: DRb1* 0402/DQb1* 0302 and DRb1* 1401/DQb1* 0503. 12196893 2003
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation disease BEFREE Dsg3-specific T-cell responses were detected in PV patients but also in healthy individuals who were either carriers of the PV-associated DRB1*0402 allele or alleles that share similar or identical peptide binding motifs to DRB1*0402. 12878355 2003