Annotation Detail
Information
- Associated Genes
- BDNF
- Associated Variants
-
BDNF MUTATION
BDNF MUTATION - Associated Disease
- epilepsy
- Source Database
- DisGeNET
- Description
- The Val66Met polymorphism in the BDNF gene may be involved in the alteration of normal secretion of the mature peptide and may modulate the epileptic phenotype observed in some patients with FXS.
- Pubmed
- 21890420
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.13062984027285
- Year of publication
- 2011
Drugs