Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 Biomarker disease BEFREE The review concludes with the roles that the UGT1A1*28 and UGT1A1*6 alleles play in adverse drug reactions (decreased glucuronidation of irinotecan, belinostat, atazanavir, pegvisomant) leading to increased exposure, reduced clearance and neutropenia (irinotecan, belinostat), increased risk for jaundice and hyperbilirubinaemia (atazanavir) and liver toxicity (pegvisomant) before discussing the future role of UGT1A1 in personalised medicine. 31092094 2020
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE Studies verified predisposition of HIV-positive carriers of UGT1A1*28 to severe atazanavir-induced hyperbilirubinaemia, intolerance to 5-fluorouracyl in gastrointestinal cancer patients with deleterious DPYD variants, failure of HCV-infected carriers of IFNL3 rs12979860 to obtain a sustained viral response to PEG-IFN-α, and hypersensitivity reactions to abacavir in HIV-positive carriers of HLA-B*57:01. 30589990 2019
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE When hyperbilirubinemia was defined as serum bilirubin concentration >342 μmol/L, the incidence of hyperbilirubinemia between patients of UGT1A1 and non-UGT1A1 mutations in the ABO HDN group was significantly different (<i>p</i> < 0.05). 31087315 2019
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 Biomarker disease BEFREE All of the pooled ORs were not significantly affected by the remaining studies and different modeling methods, indicating robust results.<b>Conclusions</b> This meta-analysis suggests that the UGT1A1*28 allele represents a biomarker for an increased risk of hyperbilirubinemia in HIV-positive patients receiving ATV. 30962262 2019
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE Subjects fulfilling the criteria of GS were enrolled into the study and prospectively followed for the clinical features, risk factors for hyperbilirubinemia, health related quality of life [Short form-36 Health Survey version 2 (SF-36v2) and Chronic Liver Disease Questionnaire (CLDQ)], vitamins assessment and UGT1A1 polymorphisms. 30717703 2019
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE Hyperbilirubinemia can also be caused by impaired bilirubin conjugation due to polymorphisms and mutations in genes involved in bilirubin metabolism (eg, UGT1A1). 31069991 2019
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE Here, we present spectrum of UGT1A1 genetic variants in 25 Pakistani children from 23 unrelated families affected with persistent unconjugated hyperbilirubinemias. 31145902 2019
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 Biomarker disease BEFREE In this study, we investigated the correlation between polymorphisms in the gene encoding UDP-glucuronosyltransferase, UGT1A1, and the development of unconjugated hyperbilirubinemia in clinical GS and post-hepatitis hyperbilirubinemia. 29386646 2018
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 Biomarker disease BEFREE In the present case report, a 20‑year‑old female presented with congenital jaundice and anemia, but did not present with the discrepancy between hyperbilirubinemia and anemia in the patient's childhood, and was not previously diagnosed with either HS or UGT1A1 deficiency. 29115431 2018
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 Biomarker disease BEFREE These results suggest that in vitro UGT1A1 inhibition assays have the potential to predict clinical hyperbilirubinemia. 30105461 2018
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE This study demonstrates that different variations present in the UGT1A1 gene and specifically, the H55R variation had a significant effect on bilirubin levels and could be genetic risk factors for hyperbilirubinemia. 30105552 2018
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE The purpose of this article is to determine the mechanism by which certain polyphenolic acids inhibit UGT1A1-mediated bilirubin glucuronidation, leading to jaundice or hyperbilirubinemia. 28603997 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE The allele frequency of UGT1A1*6 was 0.641 in the prolonged hyperbilirubinemia group, which was significantly higher than in the control group (0.092; P < .001). 28888563 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 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
0.400 GeneticVariation disease BEFREE To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. 28399191 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 AlteredExpression disease BEFREE These preliminary findings suggest that the UGT1A1 gene can influence serum bilirubin levels in sickle cell anemia and serve as a tool to differentiate an acute hemolytic condition from a pre-existing condition of hyperbilirubinemia. 28567595 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE Complete or partial inactivity of UGT1A1, the unique enzyme responsible for bilirubin glucuronidation, is commonly associated with hyperbilirubinemia. 27704169 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE FOLFIRI plus bevacizumab as a first-line chemotherapy may achieve effective disease control and be safe in patients with mCRC and hyperbilirubinemia based on UGT1A1 genotyping. 27654129 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 Biomarker disease BEFREE These findings provide a mechanism of NCoR1 in intestinal homeostasis during development and provide a key link to those events that control developmental repression of UGT1A1 and hyperbilirubinemia. 28167773 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 Biomarker disease BEFREE Although neonatal jaundice is mostly benign, excessively high levels of serum bilirubin in a small percentage of newborns can cause bilirubin-induced neurologic dysfunction, potentially leading to permanent brain damage, a condition known as <i>kernicterus</i> Although a large portion of hyperbilirubinemia cases in newborns are associated with hemolytic diseases, we emphasize here the impaired ability of UGT1A1 to eliminate bilirubin that contributes to hyperbilirubinemia-induced neurotoxicity in the developmental stage. 28283555 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 Biomarker disease BEFREE Among neonates, a population in which hyperbilirubinemia is common and often of multifactorial etiology, UGT1A1 genetic testing served as a useful clinical tool in ruling in or ruling out inherited hyperbilirubinemia. 28213806 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE Mutations in the UGT1A1 gene are responsible for hyperbilirubinemia syndromes including Crigler-Najjar type 1 and 2 and Gilbert syndrome. 29085579 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE Hyperbilirubinemia in atazanavir treated HIV-infected patients: the impact of the UGT1A1*28 allele. 28790862 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 AlteredExpression disease BEFREE Inherited hyperbilirubinaemia is attributable to a reduced UGT1A1 activity. 28338110 2017
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.400 GeneticVariation disease BEFREE Additionally participants were genotyped for those polymorphisms that are known (UGT1A1*28) or likely (HMOX-1 microsatellites) to impact bilirubinemia. 28389660 2017