Annotation Detail
Information
- Associated Genes
- UGT1A1
- Associated Variants
-
UGT1A1 MUTATION
UGT1A1 MUTATION - Associated Disease
- kernicterus
- Source Database
- DisGeNET
- Description
- Crigler-Najjar syndrome is the severe inherited form of unconjugated hyperbilirubinaemia due to mutations in the UGT1A1 gene, which can cause kernicterus early in life and can be even lethal when left untreated.
- Pubmed
- 25315738
- 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
- 8
- Original source reporting the Gene Disease association
- BeFree,CTD_human,LHGDN
- DisGENET score for the Gene Disease association
- 0.123538675858708
Drugs