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: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE Increased frequencies of both HLA-DRB1*04:04:01 and *16:02:01:01 alleles (OR = 2.91; 95% CI = 1.08-7.84) and the haplotype (DRB1-TNFA-LTA) *04:04:01-G-A (OR = 5.33; 95% CI = 1.32-21.49) were observed in AIH patients. 31570816 2019
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE The frequency of deleterious alleles in TNFAIP3 was higher in the AIH subset without the DRB1 risk alleles than that with (P = 0.0052, OR 5.10, 95%CI 1.55-16.74). 31138864 2019
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 Biomarker disease BEFREE DRB1*03:01 was singly associated with AIH among whites (odds ratio [OR]: 3.09, P = 0.002) and carriers of DRB1*03:01 also carried DQA*05:01 and DQB1*02:01. 31211758 2019
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE The C allele of rs7708392 was associated with AIH, especially AIH without DRB1*04:05, an already established risk factor. 29559739 2018
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 Biomarker disease BEFREE The predisposing association of DRB1*04:01 (P = 0.0006, corrected P [Pc] = 0.0193, odds ratio [OR] 2.97, 95% confidence interval [CI] 1.62-5.43), DRB1*04:05 (P = 1.89×10-21, Pc = 5.86×10-20, OR 3.41, 95% CI 2.65-4.38), and DQB1*04:01 (P = 4.66×10-18, Pc = 6.99×10-17, OR 3.89, 95% CI 2.84-5.33) and the protective association of DRB1*13:02 (P = 0.0003, Pc = 0.0080, OR 0.48, 95% CI 0.32-0.72) with Japanese type 1 AIH were observed. 29088299 2017
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE The presence of HLA alleles B*08:01, C*07:01, DRB1*03:01, DQB1*02:01 and possibly A*01:01 enhances the risk of AIH (type 1) in Spanish patients. 27206238 2016
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 Biomarker disease BEFREE However, DRB1(∗)11 was less frequent in AIH patients. 26780502 2016
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE Two types of autoimmune hepatitis are justified by serological markers, but they also have distinctive genetic associations (DRB1 and DQB1 genes) and autoantigens. 25999246 2015
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE The DRB1*04:05-DQB1*04:01 haplotype was significantly associated with AIH susceptibility (30% vs. 11%, P = 1.2×10(-10); odds ratio [OR]  = 3.51) and correlated with elevated serum IgG (3042 vs. 2606 mg/dL, P = 0.041) and anti-smooth muscle antigen positivity (77% vs. 34%, P = 0.000006). 24956105 2014
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 Biomarker disease BEFREE On the other hand, frequencies of A32 and DRB1*04 were high among patients with unclassified autoimmune hepatitis. 21480110 2011
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE Recently, molecular analysis using polymerase chain reaction (PCR)-based DNA typing has revealed that susceptibility to type 1 AIH is primarily associated with the HLA class II DRB1 locus, which encodes a polymorphic β chain of the HLA-DR antigen. 20957499 2011
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 Biomarker disease BEFREE Human leucocyte antigen typing revealed DRB1*03 heterozygosity, which has been associated with the occurrence of both autoimmune hepatitis and type 1 diabetes. 22797478 2010
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 Biomarker disease BEFREE By high-resolution analysis, the frequencies of DRB1 *0405 and DQB1 *0401 were significantly increased in patients with AIH (P = 0.0001, OR = 3.74; P = 0.00006, OR = 3.95, respectively). 18022727 2008
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE CD4 T cells from patients with type 2 AIH positive for the predisposing HLA allele DRB1*0701 recognize seven regions of CYP2D6, five of which are also recognized by CD8 T cells. 18528928 2008
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE In conclusion, our data indicate that type 1 AIH predisposition in a Venezuelan mestizo population of different ethnic backgrounds is associated with DRB1*1301 and DRB1*0301 alleles. 17927716 2007
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 Biomarker disease BEFREE HLA DRB1*03-DRB1*04 is a risk factor for type-1 autoimmune hepatitis, and its impact on outcome relates to the diversity of DRB1*04 alleles that encode a critical motif. 17105585 2006
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE Among the HLA DRB1 alleles, DRB1*0301 (20% vs 6.19%; P = 0.03), DRB1*1301 (15% vs 2.65%; P = 0.01), DRB1*14 (30% vs 11.5%; P = 0.02) and DRB1*1501 (40% vs 22.12%; P = 0.08) were increased in AIH patients when compared with the controls. 15683420 2005
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE Studies of type 1 AIH have focused on the major histocompatibility complex (MHC), mapping susceptibility to the DRB1 region. 12447707 2002
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE The DRB1*0405-DQB1*0401 haplotype in autoimmune pancreatitis showed no significant association with any HLA class I antigens, in contrast to the B54-DRB1*0405-DQB1*0401 haplotype reported in autoimmune hepatitis. 11984513 2002
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE In subtypes of DR4, there was a trend of increase in the gene frequency of DRB1 0405 in patients with AIH versus healthy controls (21.9% vs 6.3%, P=0.04, but P(c) =0.08). 11819862 2001
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 Biomarker disease BEFREE The principal HLA alleles associated with type 1 autoimmune hepatitis in Britain and North America are DRB1*0301 and DRB1*0401. 10807521 2000
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 Biomarker disease BEFREE Genetic susceptibility to type 1 autoimmune hepatitis is indicated by a preponderance of female subjects and strong associations with human leukocyte antigens (HLA) DRB1*0301 and DRB1*0401. 10613727 2000
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 Biomarker disease BEFREE We report on a 55-year-old woman in whom AIH developed during the convalescence period of serologically proven acute viral hepatitis type A. HLA class II DRB1*0401, which was reported to be associated with AIH with a moderate coarse and late appearance in life, was found in this patient. 10548341 1999
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE Comparison of DRB1*13- and DRB1*03-positive subjects revealed that the former alleles conferred susceptibility to younger patients with AIH type 1. 10406258 1999
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 Biomarker disease BEFREE A significant association of autoimmune hepatitis with DRB1*0404 was found, (chi2Y=19.95, pc=0.002, RR=7.71), suggesting the presence of a susceptibility gene located at the DRB1 locus. 9672174 1998