Annotation Detail

Information
Associated Genes
HIF1A
Associated Variants
HIF1A MUTATION
HIF1A MUTATION
Associated Disease
Aortic Aneurysm, Thoracic
Source Database
DisGeNET
Description
BRG1 is overexpressed in the aortic media of thoracic aortic aneurysms and the interaction between BRG1 and HIF 1 alpha-antisense RNA 1 plays a key role in the proliferation and apoptosis of vascular smooth muscle cells in vitro, which may contribute to the pathogenesis of thoracic aortic aneurysms.
Pubmed
24875884
Section of the abstract supporting the evidence
CONCLUSIONS
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
14
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs