Annotation Detail
Information
- Associated Genes
- FOXG1
- Associated Variants
-
FOXG1 MUTATION
FOXG1 MUTATION - Associated Disease
- FOXG1 syndrome
- Source Database
- DisGeNET
- Description
- 14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex encephalopathy described as a congenital variant of Rett syndrome.
- Pubmed
- 25565401
- Section of the abstract supporting the evidence
- BACKGROUND
- 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,CLINVAR,CTD_human,UNIPROT
- DisGENET score for the Gene Disease association
- 0.364343069953285
Drugs