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
Hyperbilirubinemia, Neonatal
Source Database
DisGeNET
Description
The UGT1A1 gene codon G71R allele is a risk factor for neonatal hyperbilirubinemia in the Chinese population.
Pubmed
17888052
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0493550655017284
Year of publication
2007
Drugs