SLC35A2, solute carrier family 35 member A2, 7355

N. diseases: 197; N. variants: 18
Disease: Unconjugated hyperbilirubinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia 		0.040 Biomarker disease BEFREE Crigler-Najjar syndrome (CN), caused by deficiency of UGT isoform 1A1 (UGT1A1), is characterized by severe unconjugated hyperbilirubinemia. 19830808 2010
CUI: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia 		0.040 Biomarker disease BEFREE A total of 115 male adults with unconjugated hyperbilirubinemia were divided into six subgroups according to their glucose-6-phosphate dehydrogenase (G6PD) status (normal and deficient) and UDP-glucuronosyl transferase 1 (UGT1) A1 genotypes (heterozygous variation, compound heterozygous variation and homozygous variation). 12439228 2002
CUI: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia 		0.040 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: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia 		0.040 GeneticVariation disease BEFREE Crigler-Najjar syndrome type I (CN-I) is caused by an inherited absence of UDP-glucuronosyltransferase activity toward bilirubin (B-UGT), resulting in severe non-hemolytic unconjugated hyperbilirubinemia. 8027054 1994