Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE Individuals with Gly71Arg homozygous contributed to their hyperbilirubinemia in ABO HDN patients. 31087315 2019
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE UGT1A1 gene promoter polymorphism and G71R mutation are possible risk factors for Turkish neonates with DC(-) ABO incompatibility and unexplained hyperbilirubinemia. 27842454 2017
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE The results suggested that Gly71Arg and Asn130Asp mutations in UGT1A1 and OATP2 genes might be involved in the development of hyperbilirubinemia in neonates. 26960716 2016
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE The data from the current study demonstrate that the three-dimensional polyacrylamide gel microarray method has the potential to be applied as a useful, reliable and cost-effective tool to detect the T-3279G, the A(TA)6/7TAA and the G211A mutations of the UGT1A1 gene in patients with hyperbilirubinemia and thereby aid in the diagnosis of Gilbert's syndrome. 26781906 2016
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE We previously reported that maximal body weight loss (inadequate feeding) is an independent risk factor for the development of hyperbilirubinemia in breast-fed Japanese neonates, and the UGT1A1 211G>A genotype becomes a risk factor under conditions of inadequate feeding. 25391605 2015
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE Breastfeeding and the presence of the minor A allele of rs4148323 (UGTA*6) were correlated with an increased risk of hyperbilirubinemia (OR=2.17, P=0.02 for breastfeeding; OR=9.776, P=0.000 for UGTA*6 homozygote; OR=3.151, P=0.000 for UGTA*6 heterozygote); whereas, increasing gestational age and the presence of -TA7 repeat variant of UGT1A1 decreased the risk (OR=0.721, P=0.003 for gestational age; OR=0.313, P=0.002 for heterozygote TA6/TA7). 26146841 2015
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE Five significant associations with breast-fed hyperbilirubinemia were detected after adjusting for gender, birth season, birth weight, delivery mode, gestational age and False Discovery Rate (FDR) correction: the dominant effect of rs887829 (c-364t) (Odds Ratio (OR): 0.55; 95% Confidence Interval (CI): 0.34-0.89; p = 0.014), the additive effect of (TA)n repeat (OR: 0.59; 95%CI: 0.38-0.91; p = 0.017), the dominant effect of rs4148323 (Gly71Arg, G211A) (OR: 2.02; 95%CI: 1.44-2.85; p = 5.0×10-5), the recessive effect of rs6717546 (g+914a) (OR: 0.30; 95%CI: 0.11-0.83; p = 0.021) and rs6719561 (t+2558c) (OR: 0.38; 95%CI: 0.20-0.75; p = 0.005). 25102181 2014
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE Five significant associations with breast-fed hyperbilirubinemia were detected after adjusting for gender, birth season, birth weight, delivery mode, gestational age and False Discovery Rate (FDR) correction: the dominant effect of rs887829 (c-364t) (Odds Ratio (OR): 0.55; 95% Confidence Interval (CI): 0.34-0.89; p = 0.014), the additive effect of (TA)n repeat (OR: 0.59; 95%CI: 0.38-0.91; p = 0.017), the dominant effect of rs4148323 (Gly71Arg, G211A) (OR: 2.02; 95%CI: 1.44-2.85; p = 5.0×10-5), the recessive effect of rs6717546 (g+914a) (OR: 0.30; 95%CI: 0.11-0.83; p = 0.021) and rs6719561 (t+2558c) (OR: 0.38; 95%CI: 0.20-0.75; p = 0.005). 25102181 2014
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE Recently, significant association of G71R mutation with hyperbilirubinemia in breast-fed neonates was reported. 23014115 2013
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE Our results suggest that G71R mutation of UGT1A1 is not rare; however, an association between G71R mutation and hyperbilirubinemia of unexplained cause has not been shown in Turkish newborns. 20528217 2011
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE To investigate the association between the UGT1A1*6 (G71R) and UGT1A1*28 (promoter (TA)7-repeat) genotypes and hyperbilirubinaemia in Thai patients treated with indinavir, and characterize the inhibition of human UGTs by indinavir in vitro. 16609363 2006
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE The percentages with bilirubin >or=342 micro M (20.0 mg/dL) and with persistent hyperbilirubinemia in the subjects carrying homozygous variation at nucleotide 211 (Gly71Arg) were significantly higher than the neonates carrying wild type or other genotypes. 12357057 2002
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE Our results indicate that homozygosity and compound heterozygosity for mutations in the UGT1A1 gene promoter (T-3263G and A[TA](7)TAA) and/or exon 1 of the gene (G211A) could explain the hyperbilirubinemia seen in the majority of individuals with Gilbert's syndrome. 11906189 2002
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
0.100 GeneticVariation BEFREE Concurrence of mutations of Gly71Arg and TATAA-box usually exerts a synergistic effect on hyperbilirubinemia. 11316168 2001