Annotation Detail
Information
- Associated Genes
- UGT1A1
- Associated Variants
-
UGT1A1 MUTATION
UGT1A1 MUTATION - Associated Disease
- cholelithiasis
- Source Database
- DisGeNET
- Description
- Both patients developed gallstones; however the father, who had undergone surgery for the removal of stones, had extremely severe intrahepatic cholestasis and, liver biopsy revealed fibrosis and siderosis grade III, leading us to believe that the homozygosity of the UGT1A polymorphism was responsible for the more severe clinical features in the father.
- Pubmed
- 25153905
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.036362074425338
Drugs