Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.310 Biomarker phenotype BEFREE Based on these results, 213 DILI patients from all over the Chinese mainland were further recruited to investigate possible association between UGT1A9 and DILI. 25446781 2015
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.310 Biomarker phenotype CTD_human Phenotypic and genotypic assessment of concomitant drug-induced toxic effects in liver, kidney and blood. 20623750 2011
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		0.300 Biomarker disease CTD_human Phenotypic and genotypic assessment of concomitant drug-induced toxic effects in liver, kidney and blood. 20623750 2011
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		0.300 Biomarker disease CTD_human Phenotypic and genotypic assessment of concomitant drug-induced toxic effects in liver, kidney and blood. 20623750 2011
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		0.300 Biomarker disease CTD_human Phenotypic and genotypic assessment of concomitant drug-induced toxic effects in liver, kidney and blood. 20623750 2011
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency 		0.300 Biomarker disease CTD_human Phenotypic and genotypic assessment of concomitant drug-induced toxic effects in liver, kidney and blood. 20623750 2011
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.300 Biomarker disease CTD_human Phenotypic and genotypic assessment of concomitant drug-induced toxic effects in liver, kidney and blood. 20623750 2011
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		0.300 Biomarker disease CTD_human Phenotypic and genotypic assessment of concomitant drug-induced toxic effects in liver, kidney and blood. 20623750 2011
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		0.300 Biomarker disease CTD_human Phenotypic and genotypic assessment of concomitant drug-induced toxic effects in liver, kidney and blood. 20623750 2011
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		0.300 Biomarker disease CTD_human Phenotypic and genotypic assessment of concomitant drug-induced toxic effects in liver, kidney and blood. 20623750 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 GeneticVariation disease CLINVAR Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family. 26697581 2015
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 GeneticVariation disease BEFREE Now, examination of the UGT1 gene structure in hyperbilirubinemic patients has revealed more than 100 different genetic defects in Crigler-Najjar syndromes and one genetic alternation that accounts for the majority of Gilbert's syndrome cases. 19845429 2010
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 AlteredExpression disease BEFREE The result of extreme unconjugated bilirubin in Ugt1(-/-) mice, comparable to the induced levels noted in patients with Crigler-Najjar type 1 disease, is fatal in neonatal Ugt1(-/-) mice within 2 weeks following birth. 18180294 2008
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 GeneticVariation disease CLINVAR Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation. 15712364 2005
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 GeneticVariation disease BEFREE As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. 12378576 2002
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 GeneticVariation disease BEFREE Lesions in the gene encoding bilirubin-UGT(1), lead to complete or partial inactivation of the enzyme causing the rare autosomal recessively inherited conditions, Crigler-Najjar syndrome type-1 (CN-1) and type 2 (CN-2), respectively. 11013440 2000
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 GeneticVariation disease CLINVAR Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. 11182932 2000
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 GeneticVariation disease BEFREE This study reports the molecular characterisation of the bilirubin UDP-glucuronosyl-transferase gene (UGT1) in a group of patients of Sardinian descent with Crigler-Najjar syndrome type I and their relatives. 9039987 1997
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 GeneticVariation disease BEFREE The most severe syndrome, termed Crigler-Najjar syndrome type I, is mainly associated with mutations in exons 2 to 5 that affect all UGT1 enzymes and many of the mutations result in termination codons and frameshifts. 9435989 1997
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 GeneticVariation disease BEFREE Genetic and biochemical criteria are required to link CN-I with mutations in UGT1. 7906695 1994
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 GeneticVariation disease BEFREE Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R). 7989045 1994
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.180 CausalMutation disease CLINVAR
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.150 GeneticVariation disease BEFREE Now, examination of the UGT1 gene structure in hyperbilirubinemic patients has revealed more than 100 different genetic defects in Crigler-Najjar syndromes and one genetic alternation that accounts for the majority of Gilbert's syndrome cases. 19845429 2010
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.150 GeneticVariation disease BEFREE Because the most common clinical condition associated with jaundice in adults is Gilbert's syndrome, which is characterized by an allelic polymorphism in the UGT1A1 promoter, hyperbilirubinemia was monitored in humanized UGT1 mice that expressed either the Gilbert's UGT1A1*28 allele [Tg(UGT1(A1*28))Ugt1(-/-) mice] or the normal UGT1A1*1 allele [Tg(UGT1(A1*1))Ugt1(-/-) mice]. 20194756 2010