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 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
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
0.030 GeneticVariation disease BEFREE Association between promoter and coding region mutations of UDP-glucuronosyltransferase 1A1 and beta-thalassemia/Hb E with cholelithiasis. 18081723 2008
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