# Aicardi-Goutieres syndrome

> a rare genetic neurodevelopmental disorder

**Wikidata**: [Q403453](https://www.wikidata.org/wiki/Q403453)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Aicardi–Goutières_syndrome)  
**Source**: https://4ort.xyz/entity/aicardi-goutieres-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. UniProt
5. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000213689/Orphanet_51)
7. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000115267/Orphanet_51)
9. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000172922/Orphanet_51)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000136104/Orphanet_51)
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104889/Orphanet_51)
13. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
14. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000160710/Orphanet_51)
15. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
16. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000101347/Orphanet_51)
17. [Identifiers.org](https://registry.identifiers.org/registry/doid)
18. UMLS 2023
19. Quora
20. Genetic and Rare Diseases Information Center