Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 Biomarker disease BEFREE ATV/rit-related hyperbilirubinemia has been previously associated with genetic characteristics in uridine diphosphate glucuronosyltransferase (UGT) enzyme. 28790862 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 Biomarker disease BEFREE This study aimed to characterise the role of UGT1A1 inhibition in hyperbilirubinemia and assess the broader potential of these drugs to perpetrate drug-drug interactions arising from UGT enzyme inhibition. 28065859 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE Here we use a new mouse model that targets deletion of the Ugt1 locus and the Ugt1a1 gene in liver to promote hyperbilirubinemia-induced seizures and central nervous system toxicity. 26480925 2016
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 AlteredExpression disease BEFREE Reduced expression of UGT1A1 in intestines of humanized UGT1 mice via inactivation of NF-κB leads to hyperbilirubinemia. 21983082 2012
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 AlteredExpression disease BEFREE Genetic polymorphisms affecting the activity and/or the expression of cytochromes P450 or UGT isozymes and membrane drug transport proteins are highlighted and include such examples as the association of neurotoxicity with efavirenz, nephrotoxicity with tenofovir, hepatotoxicity with nevirapine, and hyperbilirubinemia with indinavir and atazanavir. 22759796 2012
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE Our results illustrate the need for investigation of the effect of UGT1A variants other than (TA)(n) on the risk of irinotecan toxicity, as well as hyperbilirubinaemia due to hemolytic anaemia or human immunodeficiency virus protease inhibitors, so that appropriate pharmacogenetic advice can be given. 21309756 2011
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 Biomarker disease BEFREE Adult Tg(UGT1(A1*28))Ugt1(-/-) mice expressed elevated levels of total bilirubin (TB) compared with Tg(UGT1(A1*1))Ugt1(-/-) mice, confirming that the promoter polymorphism associated with the UGT1A1*28 allele contributes to hyperbilirubinemia in mice. 20194756 2010
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE The frequency of homozygous carriers of the 4 UGT1A marker haplotype increased with hyperbilirubinemia affecting all patients with bilirubin levels >85 micromol/l. 19303655 2009
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 Biomarker disease BEFREE Variations in B-UGT gene (UGT-1A1) have been related to disorders characterised by hyperbilirubinaemia. 16623861 2006
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE Both within and between the G-6-PD-deficient and control groups, our data demonstrate changing and differing contributions of hemolysis and UGT promoter polymorphism to bilirubinemia during the first 3 d of life. 11568299 2001
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE Whereas G-6-PD deficiency or Gilbert's Syndrome, alone, did not predispose to hyperbilirubinemia, G-6-PD-deficient neonates who also were heterozygotes or homozygotes for the variant UGT gene promoter did have significantly increased incidences of hyperbilirubinemia. 11803413 2001
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE We show that the combined effect of an increased bilirubin load caused by dyserythropoiesis in CDA II and decreased bilirubin conjugation caused by reduced expression of uridine diphosphate glucuronosyl transferase (UGT1A) would increase the risk of hyperbilirubinemia (P <.005) and gallstone formation (chi(2): P <.001). 10753261 2000
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE The incidence of hyperbilirubinaemia was significantly higher only in the former who were also homozygotes for the variant UGT promoter, compared with ABO-incompatible babies homozygous for the normal UGT promoter (43% vs 0, p=0.02), and with ABO-compatible controls of all UGT genotypes combined (relative risk 5.65, 95% CI 2.23-14.31). 10968441 2000
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE These findings imply a contribution of the UGT1A polymorphism associated to Gilbert's syndrome to development of the hyperbilirubinemia in G6PD deficient subjects during acute hemolytic anemia. 10359058 1999
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE Not only for the UGT1A gene, which reduces bilirubin glucuronidation, leading to genetic hyperbilirubinaemia (the Crigler-Najjar and Gilbert's syndromes), but also for 3 other UGT isoforms. 10427468 1999
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE We have previously reported that the Gly71Arg mutation of the B-UGT gene associated with Gilbert syndrome is prevalent in Japanese, Korean, and Chinese populations and was more frequently detected in neonates with severe hyperbilirubinemia than in control subjects. 9929972 1999
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE This finding indicates that the variant promoter of UGT-1 A does not contribute to the development of hyperbilirubinemia in the newborn. 10541948 1999
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 GeneticVariation disease BEFREE Elucidation of both the structure of the UGT1 gene complex, and the Mrp2 (cMoat) gene which encodes the canalicular conjugate export pump, has led to a greater understanding of the genetic basis of hyperbilirubinemia. 9748558 1998