RBM45, RNA binding motif protein 45, 129831

N. diseases: 557; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 GeneticVariation disease BEFREE The data also revealed 2 distinct celiac disease risk DR3-DQA1*05:01-DQB*02:01 haplotypes distinguished by either the DRB3*01:01:02 or DRB3*02:02:01 alleles, indicating that different DRB1*03:01-DQB1*02:01 haplotypes confer different risk for celiac disease. 28585303 2017
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 GeneticVariation disease BEFREE The DRB1 *03:01- DQB1 *02:01- DQA1 *05:01/ DRB1 *04- DQB1 *03:02- DQA1 *03 haplotype combination, encoding DQ2.5 and DQ8 molecules, was equally frequent among patients with both T1D and CeD (52.6%) and T1D patients (46.8%) but significantly lower in CeD patients (9.5%). 28247576 2017
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 Biomarker disease BEFREE In the present study, we aimed to evaluate the frequency of polymorphisms that affects the structure of the enzymes superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px), with levels being dependent on the amount of oxidative stress and whether or not there is an association with the mutations DQA1*0501, DQB1*0201, and DRB1*04 that are frequently reported for CD. 24634124 2014
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 GeneticVariation disease BEFREE The haplotype mainly associated with CD was DRB1*03-DQB1*02:01-DQA1*05:01; patients with CD vs. controls: 39.83 vs. 9.58%, P < 0.001. 23041663 2012
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 Biomarker disease BEFREE It seems that an additional CD susceptibility factor is present in the AH 8.1 but not in other DRB1*03∶01-carrying haplotypes. 23119005 2012
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 GeneticVariation disease BEFREE Moreover, the association with CD became stronger when B*08(B*08-DQA*0501-DQB1*0201-DRB1*0301, P = 5.07 x 10(-12)) was present in the DRB1*0301-DQB1*0201-DQA1*0501 (P = 5.00 x 10(-10)) extended haplotype. 20492597 2010
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 GeneticVariation disease BEFREE The risk for type 1 diabetes mellitus (T1DM) and celiac disease (CD) is related to human leukocyte antigen (HLA) DQA1, DQB1 and DRB1 loci. 19929553 2009
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 Biomarker disease BEFREE We propose the use of the DQ-CD Typing kit that allows identification of the HLA class II alleles (DQA1*0201,*03,*05, DQB1*02,*0302, DRB1*03,*04,*07) selected to be informative in the CD risk evaluation and of a second kit, namely DQ-CD Zygosis, for DQB1*02 homozygosity determination. 18076355 2008
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 GeneticVariation disease BEFREE We also confirmed a gene dosage effect of the DQB1*02-DRB1*03 haplotype estimating that DQB1*02 homozygotes are at fivefold increased risk for CD compared with DQB1*02 heterozygotes. 18257894 2008
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 GeneticVariation disease BEFREE Individuals with CD or TgAA+ were enriched for DRB1*0301-DQA1*0501-DQB1*0201, a haplotype previously reported as high risk for CD. 17145374 2006
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 Biomarker disease BEFREE As CD susceptibility has been shown to be strongly associated with the HLA alleles DQA1*0501 and DQB1*0201 (together encoding the DQ2 heterodimer) and DRB1*04 (associated with the DQ8 heterodimer), our aim was to investigate whether HLA genotyping might be useful in the identification of 1st-degree relatives of CD patients who do not need further screening for CD. 17060123 2006
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 GeneticVariation disease BEFREE Furthermore, those individuals expressing the classical HLA alleles in CD (DQB1*02/*02, DRB1*03/*07) who also carried the HSP70-1 CC genotype were twelve times more likely to develop the disease than the matched controls. 11476906 2001
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 GeneticVariation disease BEFREE The guanine-to-adenine polymorphism at position -308 of the TNFalpha gene promoter region was found associated with CD as the TNF-308A allele appeared significantly increased in frequency in CD haplotypes, and this was shown to be independent of the association between CD and the DRB1*0301,DQA1*0501,DQB1*0201 alleles. 10773355 2000
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 GeneticVariation disease BEFREE To study the possible influence of DRB1 or other DQA1 and DQB1 alleles on the CD susceptibility conferred by these DQ genes, we performed genomic HLA typing of 94 CD patients, selected those who carried at least one copy of the DRB1*0301-DQA1*0501-DQB1*0201 haplotype (N = 89) and compared them to 47 random, healthy Norwegians matched with the patients to carry at least one copy of the above haplotype. 8362409 1993
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.100 GeneticVariation disease BEFREE In dermatitis herpetiformis, as in celiac disease, the strongest association of disease was with the DQ subregion alleles DQB1*0201 and DQA1*0501 that are linked to the DRB1*0301 allele. 1919044 1991