Annotation Detail

Information
Associated Genes
HIF1A
Associated Variants
HIF1A MUTATION
HIF1A MUTATION
Associated Disease
Bilateral cataracts (disorder)
Source Database
DisGeNET
Description
To identify if HSF4b play it role in cataract development through HIF1α, we transfected SRA01/04 lens epithelial cells with small hairpin RNA of HSF4b and measured expressions Hif1α after transfection.
Pubmed
25088997
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
4
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs