Annotation Detail
Information
- Associated Genes
- IFNA13
- Associated Variants
-
IFNA13 MUTATION
IFNA13 MUTATION - Associated Disease
- Aicardi-Goutieres syndrome 1
- Source Database
- DisGeNET
- Description
- Aicardi-Goutières syndrome (AGS) is an autosomal-recessive encephalopathy in children that is characterized by mutations in numerous nucleic acid repair enzymes and elevated IFN levels.
- Pubmed
- 25500879
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
Drugs