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
pancreatic carcinoma
Source Database
DisGeNET
Description
Our findings suggest that the HIF-1α A588T polymorphism is significantly associated with higher cancer risk and the P582S polymorphism is significantly associated with pancreatic cancer risk.
Pubmed
24293391
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.015200744836497
Year of publication
2013
Drugs