EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.070 AlteredExpression disease BEFREE Our results suggest that in contrast to the known negative regulation of HIF-2α in most cell types, high PHD3 expression in ccRCC cells maintains elevated HIF-2α expression and that of its target genes, which may enhance kidney cancer aggressiveness. 30617181 2019
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.070 Biomarker disease BEFREE HIFs have been widely studied because of their involvement in cancer, and HIF2α-specific inhibitors are being investigated in clinical trials for the treatment of kidney cancer. 30275460 2018
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.070 Biomarker disease BEFREE Specifically, we identify and functionally characterize a coregulatory enhancer cluster, activated by the renal cancer driver HIF2A and an NF-κB-driven lymphoid element, as a mediator of metastasis <i>in vivo</i> We conclude that oncogenic pathways can acquire metastatic phenotypes through cross-lineage co-option of physiologic epigenetic enhancer states.<b>Significance:</b> Renal cancer is associated with significant mortality due to metastasis. 29875134 2018
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.070 Biomarker disease BEFREE On-target efficacy of a HIF-2α antagonist in preclinical kidney cancer models. 27595393 2016
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.070 Biomarker disease BEFREE The DNA-damaging agent camptothecin (CPT) and its analogs demonstrate clinical utility for the treatment of advanced solid tumors, and CPT-based nanopharmaceuticals are currently in clinical trials for advanced kidney cancer; however, little is known regarding the effects of CPT on hypoxia-inducible factor-2α (HIF-2α) accumulation and activity in clear cell renal cell carcinoma (ccRCC). 24136229 2013
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.070 AlteredExpression disease BEFREE Taken together our data identify Tempol as an agent with potential therapeutic activity targeting expression of HIF2α in VHL-deficient clear cell kidney cancer and illustrate the importance of studying biochemical processes at relevant physiological O2 levels. 23178531 2012
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.070 Biomarker disease BEFREE Kidney cancers often delete chromosome 3p, spanning the VHL tumor suppressor gene, and chromosome 14q, which presumably harbors ≥ 1 tumor suppressor genes. pVHL inhibits the hypoxia-inducible transcription factor (HIF), and HIF2α is a kidney cancer oncoprotein. 22037472 2011