Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia
0.520 SusceptibilityMutation disease ORPHANET In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk. 24997987 2014
CUI: C0859976
Disease: Idiopathic achalasia of esophagus
Idiopathic achalasia of esophagus
0.300 SusceptibilityMutation disease ORPHANET Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia. 24997987 2014
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 AlteredExpression disease BEFREE Here, we demonstrated that HLA DQA1*05 and DQB1*02 gene expression is much higher than expression of non-CD-associated genes. 27083396 2016
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 AlteredExpression disease BEFREE CD is a gluten-sensitive enteropathy, strongly associated with expression of the DQA1*0501, DQB1*0201 genotype. 7558926 1995
Diabetes Mellitus, Insulin-Dependent
0.500 AlteredExpression disease BEFREE Differential expression of insulin-dependent diabetes mellitus-associated HLA-DQA1 alleles in vivo. 9209509 1997
Diabetes Mellitus, Insulin-Dependent
0.500 AlteredExpression disease BEFREE Significantly higher mean basal levels of 2'-5' oligoadenylate synthetase activity were associated with HLA-DQA 4.6 phenotype (determined using the restriction enzyme Taq 1 and a DQA probe) and HLA-DR3 (determined serologically), whereas significantly lower mean levels of enzyme activity were associated with HLA-DQA 5.5 and HLA-DR7, in both IDDM and control subjects. 2687162 1989
CUI: C0004096
Disease: Asthma
Asthma
0.490 AlteredExpression disease BEFREE The cluster analysis of these DEGs showed that 4 genes, including human leukocyte antigen (HLA-DQA1), HLA-DRB4, integrin 3 (ITGB3) and killer cell lectin-like receptor subfamily F member 1 (KLRF1) were all significantly expressed in 3 groups, which were significantly enriched in asthma, T1D and intestinal immune network for IgA production pathway. 24838153 2014
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.200 AlteredExpression disease BEFREE These date suggest that LG type of MG may present a particular subset of childhood-onset MG, which is associated with the specific HLA subtypes DRB1*1302/DQA1*0102/DQB1*0604 and DRB1*0901/DQA1*0301/DQB1*0303. 15003812 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.150 AlteredExpression disease BEFREE In addition, the decreased mRNA expression of STAT4, HLA-DQA1, and HLA-DQB1 in HCC tissue might provide a clue to understanding their role in the progression to HCC. 25913043 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.150 AlteredExpression disease LHGDN Four of these genes (HLA-DRA, HLA-DRB1, HLA-DG and HLA-DQA), encoding MHC class II antigens, were coordinately downregulated in HCCs with early IHR compared to levels in HCCs with nonrecurrence. 15688398 2005
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 AlteredExpression disease BEFREE The DQA1*0501, DQB1*0301, and DRB1*0401 alleles, and the DQA1*0301-DQB1*0301, DQA1*0501-DQB1*0301, and DRB1*1101-DQB1*0301 haplotypes seem to be associated with low hepatitis activity; whereas DQB1*0201 allele is closely correlated with the progression of liver injury in chronic HCV infection. 18028350 2008
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 AlteredExpression disease BEFREE The haplotype DRB1*0803-DQB1*0601 significantly increased (RR=2.5, P<0.02) while the DQA1*0501-DQB1*0201 significantly decreased (RR=0.2, P<0.03) in chronic HCV carriers compared with normal controls. 16343061 2005
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 AlteredExpression disease BEFREE HLA-DQA1-positive cells in the liver sinusoid were positive for CD68 (macrophages or Kupffer cells); those in the lymphocytic infiltrates were positive for CD20 (B cells) or CD3 (T cells). mRNA levels of antigen-presenting cell (APC) markers such as CD68 and CD11c were significantly upregulated in the HCV-high group and were correlated with HLA-DQA mRNA levels. 29248968 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 AlteredExpression group BEFREE Patients with family history negative or with tumor sizes >4 cm were associated with higher HLA-DQA1 expression levels. 30813145 2019
CUI: C0003864
Disease: Arthritis
Arthritis
0.040 AlteredExpression disease BEFREE We have generated transgenic (tg) mice expressing HLA-DQ8alphabeta (DQA1*0301/DQB*0302) or HLA-DQ6alphabeta (DQA1*0103/DQB1*0601) molecules lacking endogenous murine class II expression (A beta0) to investigate the ability of these HLA class II to present type II collagen (CII) and induce collagen-induced arthritis. 9794442 1998
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.040 AlteredExpression disease BEFREE Two HLA class II haplotypes, HLA-[DQB1*0602; DQA1*0102; DR15] and HLA-[DQB1*0603; DQA1*0103; DRB1*1301] were found to be less common in 52 nonresponders compared with 68 responders, P<0.025 and P<0.05 respectively, after vaccination with hepatitis B surface antigen (HBsAg). 9820601 1998
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic
0.030 AlteredExpression disease BEFREE The phenotypic frequencies of DRB1*1101 and DQA1*0505 were significantly higher in the CAG group compared to those in the CSG group. 19906105 2009
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis
0.020 AlteredExpression disease BEFREE Gene expression profiling in DQA1*0501+ children with untreated dermatomyositis: a novel model of pathogenesis. 11937576 2002
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis
0.020 AlteredExpression disease BEFREE Gene expression profiling in DQA1*0501+ children with untreated dermatomyositis: a novel model of pathogenesis. 11937576 2002
Squamous cell carcinoma of esophagus
0.020 AlteredExpression disease BEFREE HLA-DQA1 mRNA and protein expression were significantly higher in ESCC tissues compared to the matched normal tissues. 30813145 2019
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
0.020 AlteredExpression disease LHGDN A total of 145 patients with chronic hepatitis C virus (HCV) infection (36 patients with persistently normal ALT values; 109 patients with elevated ALT levels) and 160 uninfected healthy controls were examined for HLA-DQA1, DQB1, and DRB1 molecules by using polymerase chain reaction-sequencing based typing (PCR-SBT). 18028350 2008
Oligoarticular Juvenile Idiopathic Arthritis
0.020 AlteredExpression disease BEFREE Intra-articular upregulation of HLA-DQA1 was predominantly observed for the OA-JIA associated allele HLA-DQA1*04. 19811310 2009
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.010 AlteredExpression disease BEFREE Patients with CRS showed significant increases in the expression of ctla4 and jak1 in sinonasal tissue and blood (p < 0.05), whereas the gene expression of hla-dqa1, hla-dqb1, and dusp4 was significantly decreased in patients with CRS compared to controls (p < 0.05). 30657646 2019
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.010 AlteredExpression group BEFREE We analyzed the expression profiles of HLA-DQA1 in esophageal cancer (EC) samples in the TCGA database and validated HLA-DQA1 expression by immunohistochemistry, western blotting, and quantitative reverse-transcription polymerase chain reaction in matched EC and normal tissues, respectively. 30813145 2019
CUI: C0029134
Disease: Optic Neuritis
Optic Neuritis
0.010 AlteredExpression disease BEFREE The frequencies of HLA-DQA-1B (55% in ON + CDMS, 58% in ON) and HLA-DQB-1B (49% in ON + CDMS, 59% in ON) were significantly increased compared with control subjects (41%, HLA-DQA-1B; 37%, HLA-DQB-1B). 9006417 1997