Annotation Detail
Information
- Associated Genes
- UGT1A1
- Associated Variants
-
UGT1A1 MUTATION
UGT1A1 MUTATION - Associated Disease
- Crigler Najjar syndrome, type 1
- Source Database
- DisGeNET
- Description
- A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I.
- Pubmed
- 25729974
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CTD_human,LHGDN,UNIPROT
- DisGENET score for the Gene Disease association
- 0.261765007374745
Drugs