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
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- This is the first report that HIF-1alpha is associated with the occurrence of type 2 diabetes and suggests that the P582S HIF-1alpha mutation should be assessed in larger studies as a risk factor for type 2 diabetes.
- Pubmed
- 16046581
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0860912733176056
- Year of publication
- 2005
Drugs