Disease: Crigler Najjar syndrome, type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Crigler Najjar syndrome, type 1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
0.700 GeneticVariation UNIPROT UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias. 23992562 2013
Crigler Najjar syndrome, type 1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
0.700 GeneticVariation UNIPROT Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants. 19830808 2010
Crigler Najjar syndrome, type 1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
0.700 GeneticVariation UNIPROT Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia. 17229650 2007
Crigler Najjar syndrome, type 1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
0.700 GeneticVariation UNIPROT Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation. 15712364 2005
Crigler Najjar syndrome, type 1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
0.700 GeneticVariation UNIPROT Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. 11013440 2000
Crigler Najjar syndrome, type 1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
0.700 GeneticVariation UNIPROT Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro. 7906695 1994
Crigler Najjar syndrome, type 1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
0.700 GeneticVariation UNIPROT Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase. 7989595 1994
Crigler Najjar syndrome, type 1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
0.700 GeneticVariation UNIPROT Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases. 7989045 1994
Crigler Najjar syndrome, type 1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
0.700 GeneticVariation UNIPROT A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase. 8226884 1993
Crigler Najjar syndrome, type 1
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
0.700 GeneticVariation UNIPROT Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. 1634050 1992