Annotation Detail
Information
- Associated Genes
- BDNF
- Associated Variants
-
BDNF MUTATION
BDNF MUTATION - Associated Disease
- Neurodevelopmental Disorders
- Source Database
- DisGeNET
- Description
- Reduced levels of brain-derived neurotrophic factor (BDNF) are thought to contribute to the pathophysiology of Rett syndrome (RTT), a severe neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2).
- Pubmed
- 25147297
- 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
- 0.000542883744160607
Drugs