Annotation Detail
Information
- Associated Genes
- UGT1A1
- Associated Variants
-
UGT1A6 c.862-6536G>A, UGT1A5 c.868-6536G>A, UGT1A9 c.856-6536G>A, UGT1A7 c.856-6536G>A, UGT1A4 c.868-6536G>A, UGT1A8 c.856-6536G>A, UGT1A10 c.856-6536G>A, UGT1A3 c.868-6536G>A, UGT1A1 p.Gly71Arg (p.G71R)
(
ENST00000373450.5,
ENST00000305139.11,
ENST00000360418.4,
ENST00000344644.10,
ENST00000373409.8,
ENST00000354728.5,
ENST00000305208.10,
ENST00000482026.6,
ENST00000406651.1,
ENST00000373414.4,
ENST00000373426.4,
ENST00000373445.1,
ENST00000373424.5 )
UGT1A6 c.862-6536G>A, UGT1A5 c.868-6536G>A, UGT1A9 c.856-6536G>A, UGT1A7 c.856-6536G>A, UGT1A4 c.868-6536G>A, UGT1A8 c.856-6536G>A, UGT1A10 c.856-6536G>A, UGT1A3 c.868-6536G>A, UGT1A1 p.Gly71Arg (p.G71R) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 ) - Associated Disease
- Gilbert Disease (disorder)
- Source Database
- DisGeNET
- Description
- The objective was to determine the frequencies of the following mutations in the UGT1A1 gene: A(TA)7TAA (the most common cause of Gilbert syndrome in Caucasians), G71R (more common in the Japanese and Taiwanese population), and G493R (described in a homozygous Malay woman with Crigler-Najjar syndrome type 2) in a group of Malaysian babies with hyperbilirubinemia and a group of normal controls.
- Pubmed
- 16210851
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.29501695686041
- Year of publication
- 2006
Drugs