Annotation Detail
Information
- Associated Genes
- HIF1A
- Associated Variants
-
HIF1A p.Pro582Ser (p.P582S)
(
ENST00000337138.9,
ENST00000323441.10,
ENST00000394997.5,
ENST00000539097.2 )
HIF1A p.Pro582Ser (p.P582S) ( ENST00000323441.10, ENST00000337138.9, ENST00000394997.5, ENST00000539097.2 ) - Associated Disease
- Neoplasm Metastasis
- Source Database
- DisGeNET
- Description
- However, it suggests that the therapeutic and prognostic implication of somatic VHL alteration may be different according to the mutational subtype and that the Pro582Ser change in HIF-1alpha may contribute to the development of metastases.
- Pubmed
- 15809750
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.051352171431498
- Year of publication
- 2005
Drugs