Annotation Detail
Information
- Associated Genes
- LEP
- Associated Variants
-
LEP MUTATION
LEP MUTATION - Associated Disease
- Rett syndrome
- Source Database
- DisGeNET
- Description
- Notably, patients with RTT have evidence of mitochondrial dysfunction, as well as abnormal levels of the adipokines leptin and adiponectin, suggesting overall metabolic imbalance.
- Pubmed
- 25299635
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree,LHGDN
- DisGENET score for the Gene Disease association
- 0.00326723398662778
Drugs