Annotation Detail

Information
Associated Genes
HIF1A
Associated Variants
HIF1A MUTATION
HIF1A MUTATION
Associated Disease
renal cell carcinoma
Source Database
DisGeNET
Description
MOTIF analysis of aberrantly hypermethylated regions revealed enrichment for binding sites of AP2a, AHR, HAIRY, ARNT, and HIF1 transcription factors, reflecting contributions of dysregulated hypoxia signaling pathways in RCC.
Pubmed
24916699
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
7
Original source reporting the Gene Disease association
BeFree,GAD,LHGDN
DisGENET score for the Gene Disease association
0.0369096703844495
Drugs