Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.030 GeneticVariation disease BEFREE Five beta-thalassaemia heterozygotes, who were homozygous for the extra (TA) bases in the A(TA)nTAA element of the promoter of UGT-1A, the configuration present in homozygosity in Gilbert's syndrome, had higher bilirubin levels compared to those with the (TA)6/(TA)7 or (TA)6/(TA)6 configurations. 9375768 1997
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.020 GeneticVariation disease BEFREE Five beta-thalassaemia heterozygotes, who were homozygous for the extra (TA) bases in the A(TA)nTAA element of the promoter of UGT-1A, the configuration present in homozygosity in Gilbert's syndrome, had higher bilirubin levels compared to those with the (TA)6/(TA)7 or (TA)6/(TA)6 configurations. 9375768 1997
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.200 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: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia 		0.060 GeneticVariation disease BEFREE Here we describe genetic defects that occur in the UGT1 gene complex that cause three non-haemolytic unconjugated hyperbilirubinaemia syndromes. 9435989 1997
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias. 9435989 1997
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 Biomarker disease BEFREE Previously, two modes of expression of the isoform have been described: in colon carcinoma Caco-2 cells UGT1A6 was found to be TCDD-inducible, whereas in lung carcinoma A549 cells it was constitutively expressed. 9466822 1998
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.020 Biomarker disease BEFREE Previously, two modes of expression of the isoform have been described: in colon carcinoma Caco-2 cells UGT1A6 was found to be TCDD-inducible, whereas in lung carcinoma A549 cells it was constitutively expressed. 9466822 1998
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
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.200 Biomarker disease BEFREE The recent identification of a variant promoter in the gene encoding for the bilirubin uridine-diphosphoglucuronosyl-transferase (UGT-1 A) associated with Gilbert's syndrome, allowed us to explore whether the presence of this variant promoter is a risk factor for the development of neonatal hyperbilirubinemia in normal newborns and in association with G6PD deficiency. 10541948 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: C0857007
Disease: Hyperbilirubinemia, Neonatal
Hyperbilirubinemia, Neonatal 		0.060 GeneticVariation disease BEFREE The recent identification of a variant promoter in the gene encoding for the bilirubin uridine-diphosphoglucuronosyl-transferase (UGT-1 A) associated with Gilbert's syndrome, allowed us to explore whether the presence of this variant promoter is a risk factor for the development of neonatal hyperbilirubinemia in normal newborns and in association with G6PD deficiency. 10541948 1999
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		0.020 GeneticVariation disease BEFREE The recent identification of a variant promoter in the gene encoding for the bilirubin uridine-diphosphoglucuronosyl-transferase (UGT-1 A) associated with Gilbert's syndrome, allowed us to explore whether the presence of this variant promoter is a risk factor for the development of neonatal hyperbilirubinemia in normal newborns and in association with G6PD deficiency. 10541948 1999
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.200 GeneticVariation disease BEFREE In one patient an unusually high plasma bilirubin level was associated with the variant A[TA]7TAA configuration in the TATA box of the uridine diphosphate glucuronosyltransferase (UGT-1A) gene promoter, the mutation found in most patients with mild Gilbert's syndrome. 10583252 1999
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.200 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group BEFREE Bilirubin UDP-glucuronosyltransferase 1A1 gene polymorphisms: susceptibility to oxidative damage and cancer? 11170257 2000
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 GeneticVariation group BEFREE Bilirubin UDP-glucuronosyltransferase 1A1 gene polymorphisms: susceptibility to oxidative damage and cancer? 11170257 2000
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.200 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: C4551463
Disease: Colon adenoma
Colon adenoma 		0.010 GeneticVariation disease BEFREE CYP2C9 and UGT1A6 genotypes modulate the protective effect of aspirin on colon adenoma risk. 11325819 2001
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.180 Biomarker disease BEFREE These results suggest that the UGT*1 genotpe is of importance in the genesis of gallstones in this population of patients. 11425418 2001
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.040 Biomarker disease BEFREE These results suggest that the UGT*1 genotpe is of importance in the genesis of gallstones in this population of patients. 11425418 2001
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.200 GeneticVariation disease BEFREE Its incidence was higher (P < 0.05) in patients homozygous for the (TA7) motif in the promoter of the UGT1-A1 gene, the genotype associated with Gilbert's syndrome, which seems to be a risk factor for the development of gallstones in TM and TI patients. 11843828 2001
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.180 GeneticVariation disease BEFREE Its incidence was higher (P < 0.05) in patients homozygous for the (TA7) motif in the promoter of the UGT1-A1 gene, the genotype associated with Gilbert's syndrome, which seems to be a risk factor for the development of gallstones in TM and TI patients. 11843828 2001
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.040 GeneticVariation disease BEFREE Its incidence was higher (P < 0.05) in patients homozygous for the (TA7) motif in the promoter of the UGT1-A1 gene, the genotype associated with Gilbert's syndrome, which seems to be a risk factor for the development of gallstones in TM and TI patients. 11843828 2001
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.030 GeneticVariation disease BEFREE Its incidence was higher (P < 0.05) in patients homozygous for the (TA7) motif in the promoter of the UGT1-A1 gene, the genotype associated with Gilbert's syndrome, which seems to be a risk factor for the development of gallstones in TM and TI patients. 11843828 2001
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.200 GeneticVariation disease BEFREE Both parameters were related to UDP-glucuronosyltransferase 1A1 (UGT) promoter polymorphism, associated with Gilbert's syndrome, in term male newborns. 11915038 2002