Source: ORPHANET

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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 SusceptibilityMutation ORPHANET Our data suggest an association between MHC class I and class II (HLA-A*29, HLA-B*51, HLA-DRB1*15, and HLA-DQB1*06) and susceptibility to SLE in the Saudi population. 23793423

2014

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 SusceptibilityMutation ORPHANET HLA-DRB1*13 was associated with AVE. All measured specificities of aPL-cardiolipin IgG and IgM, β2-glycoprotein-1 IgG, prothrombin (PT) IgG and a positive lupus anticoagulant test were associated with HLA-DRB1*04-while HLA-DRB1*13 was associated with IgG antibodies (β2-glycoprotein-1, cardiolipin and PT). 22893315

2013

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 SusceptibilityMutation ORPHANET Advances in lupus genetics. 23917156

2013

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 SusceptibilityMutation ORPHANET An association analysis of HLA-DRB1 with systemic lupus erythematosus and rheumatoid arthritis in a Japanese population: effects of *09:01 allele on disease phenotypes. 23407388

2013

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 SusceptibilityMutation ORPHANET Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing. 22654485

2012

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.700 SusceptibilityMutation ORPHANET Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles. 22991420

2012

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 SusceptibilityMutation ORPHANET The most strongly associated SNP with SLE was the rs9271366 (odds ratio, OR = 1.70, p = 5.6 × 10(-5)) near the HLA-DRB1 gene. 21695597

2011

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 SusceptibilityMutation ORPHANET A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 19838195

2009

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.700 SusceptibilityMutation ORPHANET Comparison of clinical characteristics among narcolepsy with and without cataplexy and idiopathic hypersomnia without long sleep time, focusing on HLA-DRB1( *)1501/DQB1( *)0602 finding. 19410508

2009

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.700 SusceptibilityMutation ORPHANET The susceptibility alleles found in Mexicans with narcolepsy are also present in Japanese and Caucasians; DRB1*04 linked protection has also been shown in Koreans. 18706091

2008

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0751362
Disease: Narcolepsy-Cataplexy Syndrome
Narcolepsy-Cataplexy Syndrome
0.530 SusceptibilityMutation ORPHANET Comparison of clinical characteristics among narcolepsy with and without cataplexy and idiopathic hypersomnia without long sleep time, focusing on HLA-DRB1( *)1501/DQB1( *)0602 finding. 19410508

2009

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0751362
Disease: Narcolepsy-Cataplexy Syndrome
Narcolepsy-Cataplexy Syndrome
0.530 SusceptibilityMutation ORPHANET The purpose of the present study was to investigate the association of HLA class II DRB1/DQB1 alleles with narcolepsy-cataplexy in Mexican Mestizo patients. 18706091

2008

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
0.470 SusceptibilityMutation ORPHANET Coding variants at hexa-allelic amino acid 13 of HLA-DRB1 explain independent SNP associations with follicular lymphoma risk. 23791106

2013

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.340 GeneticVariation ORPHANET Bullous pemphigoid: etiology, pathogenesis, and inducing factors: facts and controversies. 23806156

2013

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.340 GeneticVariation ORPHANET A common major histocompatibility complex class II allele HLA-DQB1* 0301 is present in clinical variants of pemphigoid. 8710911

1996

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
Systemic onset juvenile chronic arthritis
0.320 SusceptibilityMutation ORPHANET Meta-analysis of imputed classic HLA-type associations in six study populations of Western European ancestry revealed that HLA-DRB1*11 and its defining amino acid residue, glutamate 58, were strongly associated with sJIA [P = 2.7 × 10(-16), OR 2.3 (1.9, 2.8)], as was the HLA-DRB1*11-HLA-DQA1*05-HLA-DQB1*03 haplotype [6.4 × 10(-17), OR 2.3 (1.9, 2.9)]. 26598658

2015

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C1258104
Disease: Diffuse Scleroderma
Diffuse Scleroderma
0.320 SusceptibilityMutation ORPHANET

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0206138
Disease: CREST Syndrome
CREST Syndrome
0.310 SusceptibilityMutation ORPHANET

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies
0.300 SusceptibilityMutation ORPHANET Anti-LGI1 encephalitis is strongly associated with HLA-DR7 and HLA-DRB4. 28026046

2017

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease
0.300 SusceptibilityMutation ORPHANET HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. 26598658

2015

Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
CUI: C0748540
Disease: Scleroderma, Limited
Scleroderma, Limited
0.300 SusceptibilityMutation ORPHANET