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
Malignant neoplasm of prostate
Source Database
DisGeNET
Description
The current findings suggest that HIF1A P582S polymorphism correlates with urinary cancers risk in Caucasian population, while A588T polymorphism may increase the risk of urinary cancers in Asian population and prostate cancer.
Pubmed
23723982
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0271118495996278
Year of publication
2013
Drugs