Annotation Detail
Information
- Associated Genes
- HIF1A
- Associated Variants
-
HIF1A MUTATION
HIF1A MUTATION
HIF1A p.Pro582Ser (p.P582S) ( ENST00000337138.9, ENST00000323441.10, ENST00000394997.5, ENST00000539097.2 )
HIF1A p.Ala588Thr (p.A588T) ( ENST00000337138.9, ENST00000323441.10, ENST00000394997.5, ENST00000539097.2 )
HIF1A p.Pro582Ser (p.P582S) ( ENST00000323441.10, ENST00000337138.9, ENST00000394997.5, ENST00000539097.2 )
HIF1A p.Ala588Thr (p.A588T) ( ENST00000323441.10, ENST00000337138.9, ENST00000394997.5, ENST00000539097.2 ) - Associated Disease
- breast adenocarcinoma
- Source Database
- DisGeNET
- Description
- We aimed to study the prevalence of Hypoxia inducible factor-1α (HIF-1α) P582S and A588T polymorphisms in a Portuguese breast cancer population and its effect on the transcriptional activity of HIF-1α in MCF7 breast adenocarcinoma cells.
- Pubmed
- 23749907
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2013
Drugs