Annotation Detail

Information
Associated Genes
HIF1A
Associated Variants
HIF1A MUTATION
HIF1A MUTATION
Associated Disease
Acute Undifferentiated Leukemia
Source Database
DisGeNET
Description
TRIM62 loss was associated with altered expression of proteins involved in leukemia stem cell homeostasis (β-catenin and Notch), cell motility, and adhesion (integrin-β3, ras-related C3 botulinum toxin substrate [RAC], and fibronectin), hypoxia (Hypoxia-inducible factor 1-alpha [HIF1α], egl-9 family hypoxia-inducible factor 1 [Egln1], and glucose-regulated protein, 78 kDa [GRP78]), and apoptosis (B-cell lymphoma-extra large (BclXL) and caspase 9).
Pubmed
25248926
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs