Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation BEFREE Since 86% (19 of 22) of DRw6+ patients contain the DQB1.3 allele (vs. 3% of controls), whereas 64% (14 of 22) contain the DRB1 allele 6B (vs. 6% of the controls), we conclude that most of the DRw6 susceptibility to PV can be accounted for by the DQ beta chain. 2503828

1989

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker BEFREE There was a significant association of either DQB1*0503 or DRB1*1405 with PV, and a negative association of either DQA1*0103 or DQB1*0601 with PV was found. 7871526

1994

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker BEFREE Susceptibility to pemphigus vulgaris (PV), an autoimmune disease of the skin, is linked to a rare subtype of HLA-DR4 (DRB1*0402, 1 of 22 known DR4 subtypes). 8524878

1995

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation BEFREE The strength of the allele associations to PV is in agreement with the view that the main PV susceptibility genes are the DRB1*0402 and DQB1*0503 alleles. 9008308

1996

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation BEFREE We compared high resolution MHC class II alleles and haplotype frequencies (HLA-DRB, DQA1 and DQB1) in 37 patients with PV to 89 haplotypes of normal relatives from New Delhi and Ahmedabad. 9008309

1996

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation BEFREE Thus our findings, together with previous HLA studies on pemphigus vulgaris patients of different ethnic groups, suggest that HLA-DRB1*04 and DRB1*14 alleles are commonly associated with pemphigus vulgaris across racial barriers. 9347787

1997

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation BEFREE All DRB1*04 and DRB1*14 alleles carried by PV patients with different ethnic backgrounds reported to date, including DRB1*0402, which confers strong susceptibility to PV among Jewish populations, have amino acid residues Phe26, Leu67 or Ile67, and Val86, as well as hydrophilic amino acid residues at positions 70 and 71 of the DRB1 beta chain. 9714477

1998

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation BEFREE Taking together these data, we can conclude that, in the Spanish population, PV is preferentially and strongly associated with HLA-DRB1*0402, whereas DRB1*13 seems to confer a protective effect in our population. 9802608

1998

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker BEFREE Therefore, at least in Italian patients, pemphigus vulgaris and pemphigus foliaceus share DRB1*1401 and DQB1*0503, as susceptible human leukocyte antigen alleles, whereas DRB1*0402 is only found associated with pemphigus vulgaris. 10417627

1999

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker BEFREE We have analysed the characteristics of the 'pockets' of the susceptibility-associated molecules to PV and PF and we showed that (i) in PV, two kinds of Dsg3 derived peptides may be presented by HLA-DR according to HLA polymorphism (DRB1*0402 or DRB1*14/0406), (ii) the same Dsg1 peptides may be presented by DRB1*0102, DQB1*0404 or DRB1*14 in PF, (iii) the DRB1*14/0406 PV-related molecules may be able to present Dsg1 and Dsg3 peptides thereby providing an explanation for the cases of PV with combined responses to Dsg1 and to Dsg3 which are typified by a muco-cutaneous clinical phenotype. 10936030

2000

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation 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

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation 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

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker BEFREE A significant association between HLA-DRB1*04 (OR = 3.86; pcor = 0.0001) and DRB1*14 (OR = 8.4; pcor = 0.0001) and pemphigus vulgaris was found. 14760938

2003

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker 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

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation 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

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 AlteredExpression 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

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation 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

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation 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

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker BEFREE Our findings suggest that DRB1*04, DRB1*08 and DRB1*14 are statistically significant susceptibility factors for PV. 22564118

2012

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation GWASDB Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris. 22437316

2012

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker 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

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker 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

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker 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

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 GeneticVariation BEFREE The HLA DRB1* and DQB1* alleles influence susceptibility to PV and may contribute to PV severity and type. 24602055

2015

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
0.200 Biomarker 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