Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR1 MUTATION
ESR1 MUTATION - Associated Disease
- absence epilepsy
- Source Database
- DisGeNET
- Description
- However, the absence of clinical history of hormone exposure, predominance of smooth muscle with lack of ovarian-like stroma, prominence of epithelial nodules, and typical absence of estrogen receptor labeling suggest that it may represent a distinct entity.
- Pubmed
- 25911262
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 13
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs