SLC35A2, solute carrier family 35 member A2, 7355

N. diseases: 197; N. variants: 18
Disease: Gilbert Disease (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.100 GeneticVariation disease BEFREE To describe the populational distribution of the UGT1A1*28 variant (genetic variant code rs8175347) located in the promotor of the UGT gene and correlate its genotypes with the results of the fasting test, as well as its relationship with the biochemical disorder of Gilbert's syndrome (GS) in a Valencian population. 27866642 2019
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.100 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) 		0.100 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
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.100 GeneticVariation disease BEFREE The role of co-inheriting Gilbert's syndrome genotype was investigated studying the promoter region of the UGT1-A1 gene by automated sequencing. 19021734 2009
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.100 GeneticVariation disease BEFREE Increased heme catabolism has been reported in glucose-6-phosphate dehydrogenase (G-6-PD)-normal neonates who were also homozygous for (TA)7/(TA)7 (UGT1A1*28) uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT) promoter polymorphism (Gilbert syndrome). 17426648 2007
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.100 GeneticVariation disease BEFREE Uridine diphosphate glucuronosyltransferase 1A1 (UGT-1A1), (TA)7 polymorphism, associated with GS was found in these neonates. 16798708 2006
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.100 GeneticVariation disease BEFREE Frequencies for UGT 1A1 TATA box polymorphisms were 41, 47, and 9% for wild-type 6/6, heterozygous 6/7, and Gilbert's syndrome 7/7, respectively. 15297419 2004
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.100 GeneticVariation disease BEFREE The role of Gilbert's syndrome (GS) in neonatal hyperbilirubinemia, characterized by bilirubin levels higher than 223 microMol/L during the first seven days of life, has been investigated, evaluating the frequency of GS genotype (A(TA)7TAA polymorphism in the promoter of the gene encoding UGT1). 12012638 2002
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.100 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
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.100 GeneticVariation disease BEFREE The objective was to compare the contribution to perinatal bilirubinemia of hemolysis and UDP-glucuronosyltransferase (UGT) gene promoter polymorphism, seen in Gilbert's syndrome, between glucose-6-phosphate dehydrogenase (G-6-PD)-deficient and -normal neonates. 11568299 2001
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.100 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) 		0.100 GeneticVariation disease BEFREE We asked whether UDP glucuronosyltransferase (UGT) gene promoter polymorphism (Gilbert's syndrome) would increase hyperbilirubinaemia in direct Coombs' negative ABO-incompatible neonates, as seen in other combinations with this condition. 10968441 2000
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.100 GeneticVariation disease BEFREE We have previously reported that the Gly71Arg mutation of the B-UGT gene associated with Gilbert syndrome is prevalent in Japanese, Korean, and Chinese populations and was more frequently detected in neonates with severe hyperbilirubinemia than in control subjects. 9929972 1999