Annotation Detail
Information
- Associated Genes
- ATN1
- Associated Variants
-
ATN1 MUTATION
ATN1 MUTATION - Associated Disease
- Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
- Source Database
- DisGeNET
- Description
- Activating-mutations in NOD-like receptor (NLR) family, pyrin domain-containing 3 (NLRP3) cause neonatal-onset multisystem inflammatory disease.
- Pubmed
- 25477279
- 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
- 0.000271441872080303
Drugs