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 GeneticVariation disease BEFREE 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: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia
0.520 GeneticVariation disease BEFREE All of the women and 66.7% of the men with achalasia and the DQB1*0603 allele or the DQA1*0103-DQB1*0603 heterodimer were positive for antibodies. 11837716 2002
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Conspicuous frequencies of the alleles associated with susceptibility to CD were observed (DQA1*0501: 0.592, DQB1*0201: 0.471). 15120190 2004
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE HLA in coeliac disease families: a novel test of risk modification by the 'other' haplotype when at least one DQA1*05-DQB1*02 haplotype is carried. 12392509 2002
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Celiac disease (CD) is associated with tissue transglutaminase autoantibodies (tTGAs) in individuals carrying the human leukocyte antigen (HLA) risk haplotypes DQA1*05:01-DQB1*02:01 (DQ2) and/or DQA1*03:01-DQB1*03:02 (DQ8). 26301618 2016
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE HLA DQA1*05 and DQB1*02 alleles encoding the DQ2.5 molecule and HLA DQA1*03 and DQB1*03 alleles encoding DQ8 molecules are strongly associated with celiac disease (CD) and type 1 diabetes (T1D), two common autoimmune diseases (AD). 31331105 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE We like to suggest that the haplotype HLA-DQA1*03-DQB1*03:03 (HLA-DQ9.3), which is common in Chinese, is a new susceptibility factor for CD in China. 26496305 2015
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Four modified sequence specific primers (SSP) pairs were designed for the selective amplification of coeliac disease associated alleles (DQA1*05, DQB1*02, DQB1*03:02 alleles), and human growth hormone (positive control). 26043316 2015
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE The prevalence of the HLA-DQA1 and DQB1 alleles in 55 Turkish children with celiac disease and 50 control subjects was investigated by using an allele-specific DNA-based polymerase chain reaction-sequence-specific primer (PCR-SSP) method. 11556984 2001
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE We retrospectively reviewed the medical records of 127 consecutive cases of adult-onset celiac disease evaluated at a single United States center to determine the distribution of the associated human leukocyte antigen DQA1 and DQB1 alleles. 21292306 2011
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE In contrast, the DQA1*0501 allele did not have a significant association with the severity of CD. 16484124 2006
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Genetic susceptibility of celiac disease is primarily associated with a particular combination of and HLA-DQA1/DQB1 gene; however, this does not fully account for the genetic predisposition. 8253354 1993
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease LHGDN Conspicuous frequencies of the alleles associated with susceptibility to CD were observed (DQA1*0501: 0.592, DQB1*0201: 0.471). 15120190 2004
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Individuals homozygous for DQ2 or heterozygous for DQA1*05-DQB1*02/DQA1*0201-DQB1*02 were found to be at five-fold increased risk for development of coeliac disease (P<10(-8)). 15014431 2004
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Typing of DNA from 94 unrelated children with celiac disease (CD) with HLA-DQA1 and -DQB1 allele-specific oligonucleotide probes revealed that all but one (i.e., 98.9%) may share a particular combination of a DQA1 and a DQB1 gene. 2909659 1989
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE celiac disease is associated with the HLA class II alleles: DQA1*05-DQB1*02 and DQB1*0302. 24274444 2013
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE The DQA1*0501 and DQB1*0201 alleles (hereafter DQ2) confer genetic susceptibility to celiac disease (CD). 9129973 1997
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease GWASCAT A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. 17558408 2007
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Genetic investigation regarding all three patients revealed the existence of HLA DQ A1*0501 allele associated with susceptibility to coeliac disease. 11208478 2001
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE DQA1*0101 allele appears significantly in DS-CD + patients and deserves to be searched for in a larger sample to assess its meaning in the DS-CD association. 8890082 1996
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Both HLA alleles DQA1*05 and DQB1*02 are associated with a greatly increased risk of CD, although the latter has the greater effect. 17919990 2007
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE A gene dosage effect of the DQA1*0501/DQB1*0201 allelic combination influences the clinical heterogeneity of celiac disease. 7928444 1994
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE For the development of classic gluten-sensitive CD a certain HLA haplotype involving the loci DQA1* and DQB1* and encoding two different HLA DQ heterodimers is the prerequisite. 23609110 2013
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease GWASDB A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. 17558408 2007
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.500 GeneticVariation disease BEFREE Of CD patients, 92% (50% DR3 and 42% DR5,7) compared to 18% of the controls carry both DQA1*0501 and DQB1*0201 alleles, so that the combination confers an RR of 52, higher than both the risks of the single alleles (DQA1*0501 RR = 19, DQB1*0201 RR = 30), confirming the primary role of the dimer in determining genetic predisposition to CD both in DR3 and in DR5,7 subjects. 1563982 1992