Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR1 MUTATION
ESR1 MUTATION - Associated Disease
- Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
- Source Database
- DisGeNET
- Description
- ERα is highly expressed in female hPASMCs from PAH patients and mediates oestrogen-induced proliferation of hPASMCs via mitogen-activated protein kinase and Akt signalling.
- Pubmed
- 25765937
- Section of the abstract supporting the evidence
- CONCLUSION
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 9
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs