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
- Neoplasm Metastasis
- Source Database
- DisGeNET
- Description
- Hypoxia-inducible factor-1 (HIF-1) influences cancer progression and metastasis through various mechanisms, and HIF-1α polymorphisms are reportedly associated with many cancers; however, the associations of HIF-1α P582S and A588T polymorphisms with the risk of digestive system cancer remain inconclusive.
- Pubmed
- 24293391
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.051352171431498
- Year of publication
- 2013
Drugs