Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022346
Disease: Icterus
Icterus
0.030 GeneticVariation phenotype 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: C0022346
Disease: Icterus
Icterus
0.030 Biomarker phenotype BEFREE The extreme jaundice is present as a phenotype in skin color after 8 h. Neonatal Ugt1(-/-) mice exhibit no detectable UGT1A-specific RNA, which corresponds to a complete absence of UGT1A proteins in liver microsomes. 18180294 2008
CUI: C0022346
Disease: Icterus
Icterus
0.030 GeneticVariation phenotype BEFREE The frequency of UDP-glucuronosyltransferase 1A1 promoter region (TA)7 polymorphism in newborns and it's relation with jaundice. 17166930 2007