Annotation Detail
Information
- Associated Genes
- UGT1A1
- Associated Variants
-
UGT1A1 MUTATION
UGT1A1 MUTATION - Associated Disease
- Gilbert Disease (disorder)
- Source Database
- DisGeNET
- Description
- The high levels of bilirubin could be related to the co-inheritance of Gilbert syndrome determined either by mutations of the coding region or by variation in the (TA)n motifs of the promoter region of the bilirubin UGT1A1 gene.
- Pubmed
- 24620945
- Section of the abstract supporting the evidence
- BACKGROUND
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,UNIPROT
- DisGENET score for the Gene Disease association
- 0.29501695686041
Drugs