Annotation Detail
Information
- Associated Genes
- HIF1A
- Associated Variants
-
HIF1A MUTATION
HIF1A MUTATION - Associated Disease
- ABLEPHARON-MACROSTOMIA SYNDROME
- Source Database
- DisGeNET
- Description
- Two low oxygen sensors, Egl nine homolog 1 (EGLN1) and hypoxia-inducible factor 1-α inhibitor (HIF-1AN), play pivotal roles in the regulation of HIF-1α, and high altitude adaption may be involved in the pathology of acute mountain sickness (AMS).
- Pubmed
- 25431923
- 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
- 0.00081432561624091
Drugs