ARID5B, AT-rich interaction domain 5B, 84159

N. diseases: 56; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 GeneticVariation phenotype BEFREE Mutations and single nucleotide polymorphisms of AT-rich interactive domain-containing protein 5B (ARID5B) are involved in the oncogenesis of acute lymphoblastic leukemia (ALL) and treatment outcomes. 30420689 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 AlteredExpression group BEFREE Mediation analysis supports assumptions that ARID5B expression mediates effects of cg25953130 methylation and several cardiovascular disease risk factors on atherosclerotic burden. 28855511 2017
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness
0.100 GeneticVariation phenotype GWASCAT Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density. 30894546 2019
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness
0.100 GeneticVariation phenotype GWASCAT Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 29760442 2018
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE ARID5B gene polymorphisms and the risk of childhood acute lymphoblastic leukemia: a meta-analysis. 31111395 2019
Childhood Acute Lymphoblastic Leukemia
0.400 AlteredExpression disease BEFREE We analyzed association of ARID5B expression in primary human ALL blasts with molecular subtypes and treatment outcome. 31573954 2020
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE The 10q21.2 (ARID5B) risk association appears to be selective for the subset of B-cell precursor ALL with hyperdiploidy. 19684604 2009
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Association was also validated at four known ALL susceptibility loci: ARID5B, IKZF1, CEBPE, and CDKN2A/2B. 23512250 2013
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE In the present study we confirmed the roles of genetic variations in ARID5B and IKZF1 in the susceptibility to B-cell ALL. 23021489 2012
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay. 24564228 2014
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease CTD_human These ARID5B SNPs also distinguished B-hyperdiploid ALL from other subtypes in an independent validation cohort (n = 124 children with ALL; P = 0.003 and P = 0.0008, OR 2.45 and 2.86, respectively) and were associated with methotrexate accumulation and gene expression pattern in leukemic lymphoblasts. 19684603 2009
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Genome wide association studies (GWAS) have established association of ARID5B and IKZF1 variants with childhood acute lymphoblastic leukemia (ALL). 25310577 2014
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE This study provides a strong rationale for more detailed analysis to identify the causal variants at this locus and to better understand the overall functional contribution of ARID5B to childhood acute lymphoblastic leukemia susceptibility. 20460642 2010
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE For ARID5B (rs10821936), homozygosity for the variant allele increased risk for the ALL/MLL- subgroup only (OR = 7.2, 95% CI = 2.5-20.6). 22422485 2013
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Finally, two cases had partial deletions of AT rich interactive domain 5B (ARID5B), indicating that acquired as well as constitutional variants in this locus may be associated with pediatric ALL. 21098271 2010
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE This meta-analysis suggests that ARID5B genetic polymorphism was associated with the increased risk of ALL. 23975371 2014
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE ARID5B polymorphisms are important determinants of childhood ALL susceptibility and treatment outcome, and they contribute to racial disparities in this disease. 22291082 2012
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Statistically significant association between genotype at 7p12.2 (IKZF1), 10q21.2 (ARID5B) and the NBS associated locus, 8q21.3 (NBN) and ALL risk was found; odds ratios (ORs), 1.34 (P=0.002), 1.33 (P=0.003), and 1325.21 (P=0.0028), respectively. 21889209 2011
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Seven SNPs (rs10821936, rs10994982, rs7089424, rs2393732, rs2393782, rs2893881, rs4948488) of ARID5B were analyzed in 384 controls and 298 ALL children using genomic DNA and TaqMan probes. 31227872 2019
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE The current case-control study evaluated variants in ARID5B (rs7089424, rs10821936), IKZF1 (rs4132601) and CEBPE (rs2239633) genes, which appear most significantly associated with risk of developing childhood B-lineage ALL. 27644650 2016