Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.040 GeneticVariation BEFREE We studied 112 patients (77 sickle cell anemia, 22 β-thalassemia intermedia and 13 HbE-β-thalassemia) who were on hydroxyurea therapy for 2 years for their response towards hyperbilirubinemia associated with UGT1A1 promoter polymorphism. 20709051

2010
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.040 GeneticVariation BEFREE Cholelithiasis has a remarkable frequency and precocity in patients with TM and especially in those with (TA)(7)/(TA)(7) UGT1-A1 genotype. 19021734

2009
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.040 GeneticVariation BEFREE Association between promoter and coding region mutations of UDP-glucuronosyltransferase 1A1 and beta-thalassemia/Hb E with cholelithiasis. 18081723

2008
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.040 GeneticVariation 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