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: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 Biomarker BEFREE According to the univariate analysis, overlapping features of autoimmune hepatitis (rPSC in 5/5, <i>P</i> ≤ 0.05) and <i>HLA-DRB1*07</i> in the donor (rPSC in 10/15, <i>P</i> ≤ 0.05) represent other potential risk factors for rPSC, while the <i>HLA-DRB1*04</i> (rPSC in 0/6, <i>P</i> ≤ 0.05), <i>HLA-DQB1*03</i> (rPSC in 1/11, <i>P</i> ≤ 0.05), and <i>HLA-DQB1*07</i> (rPSC in 0/7, <i>P</i> ≤ 0.05) recipient alleles may have protective roles. 30487703

2018

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE In contrast, only 65% of HLA-DRB1*13:01 haplotypes in an admixed/non-European PSC population carried this allele, suggesting that further assessments of the PSC-associated haplotype HLA-DRB1*13:01-DQA1*01:03-DQB1*06:03 in admixed or multi-ethnic populations could aid in identifying the causative allele. 28695657

2017

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE Genetically, the strong PSC risk factors HLA-B*08 (frequency in healthy 13%) and DRB1*03 (14%) were more prevalent in ANCA-positive than -negative patients (43% vs 25%, P=.0012 and 43% vs 25%, P=.0015 respectively). 27558072

2017

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE HLA-DRB1 alleles of 76 children with pAILD (autoimmune hepatitis [AIH], autoimmune sclerosing cholangitis [AISC], primary sclerosing cholangitis [PSC]) and of 50 healthy blood donors as control group were analyzed retrospectively. 26567543

2016

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 Biomarker BEFREE In contrast, small duct PSC without IBD was only associated with HLA-DRB1*13:01(P = 0.03) and was otherwise distinctly dissimilar from large duct PSC. 24517468

2014

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 Biomarker BEFREE For HLA-B*08, HLA-C*07 and DRB1*04 the associations remained evident in a subgroup analysis of non-PSC recipients (P = 0.04, P = 0.003 and P = 0.02, respectively). 24744588

2014

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE Our study shows that classical HLA class I and II alleles, predominantly at HLA-B and HLA-DRB1, are the main risk factors for PSC in the MHC. 25521205

2014

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 Biomarker BEFREE DRB1*13:01, which was PSC-associated, had a positive P9 pocket and DRB1*13:02, protective against PSC, had a negative P9 pocket. 21413052

2011

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 Biomarker BEFREE At HLA-DRB1, we confirmed positive and negative associations with DRB1*15 and DRB1*07, respectively, while there were no associations with the DRB1*03, *04 or *1301 alleles typically detected in PSC in Northern Europe. 20347497

2010

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE A history of ACR and presence of HLA-DRB1*08 are associated with increased risk of recurrent PSC, suggesting an immunologic mechanism for this syndrome. 18236405

2008

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 Biomarker BEFREE Only patients with primary sclerosing cholangitis had a comparable occurrence of HLA DRB1*13. 17510796

2008

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE Two HLA risk haplotypes in PSC (carrying DRB1*0301 or DRB1*1501, respectively) were devoid of both of these alleles, and carried the 5.1 variant of the major histocompatibility complex class I chain-related A (MICA) gene previously reported to influence PSC susceptibility. 17383044

2007

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE Primary sclerosing cholangitis (PSC) is associated with the human leukocyte antigen (HLA)-DRB1*0301-DQA1*0501-DQB1*0201 (DR3) and HLA-DRB1*1301-DQA1*0103-DQB1*0603 (DR6) haplotypes. 17257319

2007

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE Frequencies of DRB1*01, DQA1*0101, DQB1*0102 (14 vs. 8%, p<0.05), DRB1*16, DQA1*0102, DQB1*0502 (8 vs. 3%, p<0.025) and DRB1*04, DQA1*03, DQB1*0301 (10 vs. 4%, p<0.005) haplotypes were more elevated in PSC patients. 14567462

2003

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE This association was secondary to the association of PSC with the A1-B8-DRB1*0301-DQA1*0501-DQB1*0201 haplotype. 11454808

2001

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE Primary sclerosing cholangitis is associated with the HLA haplotypes A1-B8-DRB3*0101-DRB1*0301-DQA1*0501-DQB1*0201 and DRB3*0101-DRB1*1301-DQA1*0103-DQB1* 0603. 10068102

1999

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE Genetic susceptibility to primary sclerosing cholangitis (PSC) is associated with the extended HLA A1-B8-DR3 haplotype and also with the DRB3*0101-DRB1*0301-DQA1*0103-DQB1*0603 haplotype. 9731555

1998

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE Of the recently described HLA associations in PSC, the association with the DRB1*1301, DQA1*0103, DQB1*0603 haplotype was decisively confirmed, whereas the DRB1*04 specificity was only slightly under-represented and the frequency of DR2 was neutral. 7875491

1995

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.100 GeneticVariation BEFREE In this study, HLA DRB, DQA and DQB genotypes were studied using gene amplification and sequence-specific oligonucleotide probing in 71 patients with primary sclerosing cholangitis and 68 healthy controls to determine the frequency among the patients of the DRB3*0101 allele that encodes DRw52a and whether other class II alleles are involved in susceptibility or protection. 1639348

1992