Annotation Detail
Information
- Associated Genes
- UGT1A1
- Associated Variants
-
UGT1A1 MUTATION
UGT1A1 MUTATION - Associated Disease
- Unconjugated hyperbilirubinemia
- Source Database
- DisGeNET
- Description
- Our result suggests an important role for homozygous c.558C>A mutations in the UGT1A1 gene in the development of severe unconjugated hyperbilirubinemia.
- Pubmed
- 25729974
- 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
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0100433492669712
Drugs