Annotation Detail
Information
- Associated Genes
- BMAL1
- Associated Variants
-
BMAL1 MUTATION
BMAL1 MUTATION - Associated Disease
- Angelman syndrome
- Source Database
- DisGeNET
- Description
- Moreover, inactivation of Ube3a expression elevates BMAL1 levels in brain regions that control circadian behavior of AS-model mice, indicating an important role for Ube3a in modulating BMAL1 turnover.
- Pubmed
- 25660546
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs