|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
BEFREE |
Among Chinese children, G71R and P364L is independently associated with PUCH, A(TA)7TAA is associated with GS, and Y486D or other disease-causing mutations were associated with CNS-II.
|
30544479 |
2018 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
BEFREE |
The frequency of hepatic iron deposition in CNS-II was significantly higher than that in GS (P = .002).The linked polymorphic mutations, A(TA)7TAA and c.-3279T>G in UGT1A1, were most strongly associated with GS, whereas mutations in the coding region, especially p.G71R and p.Y486D, were more strongly associated with CNS-II.
|
29137095 |
2017 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
BEFREE |
The mutation in typical CN-2 was a homozygous double missense mutation of p.[G71R:Y486D].
|
26250421 |
2016 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.
|
23992562 |
2013 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.
|
23099197 |
2013 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
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 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and UGT1A1*62 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.
|
18004206 |
2007 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
|
17229650 |
2007 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
BEFREE |
UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and UGT1A1*62 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.
|
18004206 |
2007 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
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 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II.
|
14550264 |
2003 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.
|
12402338 |
2002 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.
|
11370628 |
2001 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
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 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.
|
9639672 |
1998 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.
|
9621515 |
1998 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
BEFREE |
Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II.
|
9630669 |
1998 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.
|
8706880 |
1996 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
|
7989595 |
1994 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.
|
8276413 |
1993 |
|
Crigler Najjar syndrome, type 2
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.
|
8280139 |
1993 |