Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE Increased risk is assessed using three single nucleotide polymorphisms for HLA DRB1*03 (DR3), HLA DRB1*04 (DR4), HLA DQB1*0302 (DQ8) alleles, and defined as 1. an HLA DR3/DR4-DQ8 or DR4-DQ8/DR4-DQ8 genotype or 2. an HLA DR4-DQ8 haplotype and a first-degree family history of type 1 diabetes. 29121687 2018
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE Our study shows an association of HLA DQB1 genotypes with CD4+CD25+(high) T-cell apoptosis, which implicates CD4+CD25+(high) T-cell apoptosis as a new intermediate trait for T1D. 19295543 2009
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE The type 1 diabetes protective HLA DQB1*0602 allele is less frequent in gestational diabetes mellitus. 19347328 2009
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE In this study, we have investigated the frequencies of TAP1 and TAP2 alleles in a group of 226 persons, living in La Reunion Island, consisting of 70 patients with insulin-dependent diabetes mellitus (IDDM) and most of their first degree relatives (i.e., 156 parents and full sibling subjects) and previously HLA DQB1, DQA1, and DRB1 genotyped. 15336779 2004
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE Our results suggest that HLA DQB1*0401 is a predisposing genetic marker for the development of AITD in patients with type 1 DM in Korea. 12911285 2003
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE Tests for five HLA DQB1 alleles and four diabetes-associated autoantibodies were carried out on 1,584 older sibs of infants with an increased HLA-defined genetic risk of Type 1 diabetes. 12637984 2003
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE We conclude that DQ-LTR13 marks additional genetic risk for Type I diabetes on predisposing DRB1(*)0401- DQ8 and DQ2 haplotypes and will help to further define susceptibility in this gene region. 11914751 2002
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE In this study, peripheral blood monocytes were differentiated to macrophages with macrophage-colony stimulating factor (M-CSF) to determine lipopolysaccharide (LPS)-stimulated tumour necrosis factor (TNF)-alpha, interleukin (IL)-1beta, IL-6, IL-12 and prostaglandin E-2 (PGE-2) secretion from hetero- or homozygous HLA DQB1*0201 and *0302 type 1 diabetes mellitus patients, first-degree relatives and homozygous HLA DQB1*0602 healthy controls. 12410803 2002
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE We identified and observed from birth 2949 infants with increased genetic risk of Type I (insulin-dependent) diabetes mellitus (HLA DQB1*02/ *0302 or DQB1*0302/x, x = other than *02, *0301 or *0602) and monitored them for islet cell antibodies at 3 to 6 month intervals. 11206413 2001
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE The objective was to evaluate the prevalence and association of several markers (islet cell antibodies: ICA, insulin autoantibodies: IAA, glutamic acid decarboxylase antibodies: GADA and ICA512 antibodies: ICA512A) along with HLA DQB1 genotype in type 1 diabetes mellitus of recent onset, including siblings and individuals without any history of this disease, in an Argentine population. 11474874 2001
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE We present the case of a well characterised M.O.D.Y. type 2 diabetes family in which one of the children associated beta cell autoimmunity and a HLA DQB1 at risk for immune-mediated type 1 diabetes mellitus. 11240447 2001
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE Amongst the IDDM children with heterozygous genotype at codon 57 of HLA DQB1, 6/55 (11%) had Asp/Ala, 8/55 (15%) had Ala/Val, 4/55 (7%) had Ala/Ser and 1/55 had Asp/Val allelic combinations. 10782017 2000
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE All siblings were younger than 6 yr of age at the initial sampling, and they were monitored for the emergence of islet cell antibodies (ICA), insulin autoantibodies (IAA), glutamate decarboxylase antibodies (GADA), and IA-2 antibodies (IA-2A) up to the age of 6 yr and for progression to clinical type 1 diabetes up to the age of 10 yr. All 160 siblings with DNA samples available were typed for susceptible (DQB1*02 and *0302) and protective (DQB1*0301 and *0602-03) HLA DQB1 alleles. 10720050 2000
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE It was also shown that there is an association between T668C mutation and low HLA related risk of IDDM development, the highest frequency of F206L mutation in the EGF domain of L-selectin was observed in relatives with 'protective' HLA DQB1*0602 allele and nonDRB1*03-nonDRB1*04 haplotype, while in subjects with highest risk of IDDM haplotype the frequency of T668C mutation was similar to the controls. 11064106 2000
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE Thus, the presence of DQLTR3 on HLA DQB1*0302 and its absence on DQB1*0201 haplotypes are independent genetic risk markers for type 1 diabetes. 10199786 1999
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE Negative association between type 1 diabetes and HLA DQB1*0602-DQA1*0102 is attenuated with age at onset. Swedish Childhood Diabetes Study Group. 10331157 1999
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE T-cell responses to GAD and CVB4 were analyzed in relation to HLA DQB1 risk alleles for IDDM and antibodies to GAD and CVB4. 10588452 1999
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE Of major interest for IDDM susceptibility are the promoter "splits" of HLA DQA1*0301 (QAP3.1 and QAP3.2) and HLA DQB1*0302 (QBP3.2 and QBP3.3). 9458118 1997
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE Limited loss of tolerance to islet autoantigens in ICA+ first degree relatives of patients with type I diabetes expressing the HLA dqb1*0602 allele. 8816981 1996
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE Analysis of 73 informative meiotic events in IDDM and control families demonstrated a recombination fraction between HLA DQB1 and TAP2 loci of 0.041 (Log of the odds score = 16.5; p < 10(-8)) indicating strong linkage between these loci. 7589884 1995
Diabetes Mellitus, Insulin-Dependent
0.200 Biomarker disease BEFREE HLA DQB1*0201 and DQB1*0302 were more frequent in IDDM patients (*0201, 62% vs. 36% in controls, *0302, 59% vs. 19% controls), whereas DQB1*0602 was less frequent in IDDM (4%) and GD (18% vs. 31% of controls). 7608264 1995
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE The HLA DQB1*0502 allele is neutrally associated with insulin-dependent diabetes mellitus in the Sardinian population. 1412411 1992
Diabetes Mellitus, Insulin-Dependent
0.200 GeneticVariation disease BEFREE HLA-DQB 1 codon 57 and genetic susceptibility to type 1 (insulin-dependent) diabetes mellitus in French children. 2328849 1990
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.130 GeneticVariation disease BEFREE SNPs of HLA-DPA1 (rs3077), HLA-DPB1 (rs9277542), HLA-DQB1 (rs2856718) and HLA-DQB2 (rs7453920) were determined, and HBV genotyping was performed by phylogenetic analysis in HBV patients. 28267888 2017