Annotation Detail
Information
- Associated Genes
- IFNA13
- Associated Variants
-
IFNA13 MUTATION
IFNA13 MUTATION - Associated Disease
- Encephalopathies
- Source Database
- DisGeNET
- Description
- In humans, loss of function mutations in the SAMHD1 (AGS5) gene cause a severe form of Aicardi-Goutières syndrome (AGS), an inherited inflammatory-mediated encephalopathy characterized by increased type I IFN activity and upregulation of IFN-stimulated genes (ISGs).
- Pubmed
- 25672750
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs