Disease: Gilbert Disease (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.860 GeneticVariation BEFREE In the multiple regression model, heterozygous A(TA)7TAA, G71R/P364L, and Y486D/other mutations were significantly associated with increased risk of GS, PUCH, and CNS-II, respectively. 30544479 2018
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.860 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
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.860 GeneticVariation BEFREE Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y486D] + [Y486D] mutations, which suggests Crigler-Najjar syndrome type II rather than GS. 21319362 2011
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.860 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
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.860 GeneticVariation UNIPROT Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. 17496722 2007
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.860 GeneticVariation BEFREE Homozygous or heterozygous Y486D (8%) and P229Q (8%) were also observed in GS. 15304120 2004
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.860 GeneticVariation UNIPROT Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome. 12139570 2002
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.860 GeneticVariation UNIPROT Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. 11013440 2000
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.860 GeneticVariation UNIPROT Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene. 9627603 1998
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.860 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
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.860 GeneticVariation UNIPROT Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. 7715297 1995
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		G 0.860 GeneticVariation CLINVAR
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		G 0.860 CausalMutation CLINVAR