|
Gilbert Disease (disorder)
|
|
0.800 |
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 |
|
Gilbert Disease (disorder)
|
|
0.800 |
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 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
BEFREE |
The data from the current study demonstrate that the three-dimensional polyacrylamide gel microarray method has the potential to be applied as a useful, reliable and cost-effective tool to detect the T-3279G, the A(TA)6/7TAA and the G211A mutations of the UGT1A1 gene in patients with hyperbilirubinemia and thereby aid in the diagnosis of Gilbert's syndrome.
|
26781906 |
2016 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
BEFREE |
The common 211G>A mutation is one of the causes of Gilbert's syndrome in Taiwanese population.
|
25611851 |
2015 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
BEFREE |
For rapid and accurate molecular diagnosis of Gilbert's syndrome, DNA melting curve analysis was evaluated for its genotyping capability not only for TATA-box repeats of the UGT1A1 promoter, but also for G211A of UGT1A1 exon 1.
|
24615032 |
2014 |
|
Bilirubin measurement
|
|
0.800 |
GeneticVariation
|
GWASCAT |
A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.
|
23371916 |
2013 |
|
Bilirubin measurement
|
|
0.800 |
GeneticVariation
|
GWASDB |
A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.
|
23371916 |
2013 |
|
Bilirubin measurement
|
|
0.800 |
GeneticVariation
|
GWASCAT |
The protein coding variant rs4148323, which is monomorphic in European-derived populations, may be specifically associated with serum bilirubin levels in Asians (P = 2.56 x 10(-70)).
|
20639394 |
2010 |
|
Gilbert Disease (disorder)
|
|
0.800 |
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 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter.
|
17496722 |
2007 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
BEFREE |
We sought to investigate the role of three UGT1A1 polymorphisms (A[TA](n)TAA, -3279T-->G, and G71R) in the susceptibility to Gilbert's syndrome in 53 Italian pediatric subjects compared to 83 unaffected controls.
|
16792515 |
2006 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.
|
12139570 |
2002 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
BEFREE |
The TATAA-box mutation and Gly71Arg are the major causes for Gilbert's syndrome in our population.
|
11316168 |
2001 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Several structural mutations of UGT1A1, for example, a G71R substitution, have been reported to cause mild reduction of UGT activity toward bilirubin, resulting in mild hyperbilirubinemia, consistent with Gilbert syndrome.
|
11013440 |
2000 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
BEFREE |
G71R is the most common missense mutation we found in our analyses in Japanese patients with Gilbert's syndrome, and it corresponds to a UGT1A1 polymorphism in the Japanese population (the allele frequency is.16).
|
11061796 |
2000 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.
|
9627603 |
1998 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
BEFREE |
The decreased activities of the single homozygous model of G71R and the double homozygous model were at an appropriate level to be diagnosed as Gilbert's syndrome and CN-II, respectively.
|
9630669 |
1998 |
|
Gilbert Disease (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.
|
7715297 |
1995 |
|
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 |