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
- neonatal jaundice
- Source Database
- DisGeNET
- Description
- Recently, it has been reported that a mutation of the UGT1A1 gene, glycine to arginine at codon 71 (G71R), is related to the development of neonatal jaundice in East Asian populations.
- Pubmed
- 15491385
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0140066948696526
- Year of publication
- 2004
Drugs