Annotation Detail
Information
- Associated Genes
- FOXG1
- Associated Variants
-
FOXG1 MUTATION
FOXG1 MUTATION - Associated Disease
- Neurodevelopmental Disorders
- Source Database
- DisGeNET
- Description
- Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1).
- Pubmed
- 25389532
- 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