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: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE It would be fair to announce that combine targeting for both hypoxia inducible factor (HIF)-1α and HIF-2α may hold a therapeutic promise for high-stage tumors, but an ongoing research is required to direct this hypothesis toward certainty. 31816327 2020
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.100 AlteredExpression disease BEFREE This study revealed that the cartilage protective effect of osthole in a MIA-induced osteoarthritis (OA) murine model can be explained by downregulation of COX-2 and RUNX2 by inhibition of NF-κB and HIF-2α up-regulated by OA induction, resulting in downregulation of MMP-13, Syndecan IV and ADAMTS-5. 31765607 2020
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.100 Biomarker disease BEFREE Our results reveal that high level of oestrogen can aggravate the degenerative changes of mandibular condylar cartilage, while lack of oestrogen can alleviate it via oestrogen-ERβ-HIF2α pathway during TMJ OA progression. 31678498 2020
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.020 AlteredExpression disease BEFREE Myocyte-specific Hif2a or ErbB1 knockout mice were generated to observe the effect of Hif2a knockdown in regulating ERBB1 expression and to examine the role of ERBB1 during myocardial ischemia and reperfusion injury. 31794514 2020
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
0.020 AlteredExpression disease BEFREE Myocyte-specific Hif2a or ErbB1 knockout mice were generated to observe the effect of Hif2a knockdown in regulating ERBB1 expression and to examine the role of ERBB1 during myocardial ischemia and reperfusion injury. 31794514 2020
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Our findings also suggest that MTHFD2 and HIF-2α form a positive feedforward loop in RCC, promoting metabolic reprograming and tumor growth. 31289360 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE A small molecule inhibitor that binds to HIF-2α and blocks dimerization with HIF-1β is in clinical trials for the treatment of renal cell carcinoma. 30625281 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease BEFREE Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1). 31231134 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.400 GeneticVariation disease BEFREE Somatic HIF2A mutations (p.A530V, p.P531S, and p.D539N) were identified in DNA extracted from PGLs of 3 patients. 30644531 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 Biomarker disease BEFREE Our findings also suggest that MTHFD2 and HIF-2α form a positive feedforward loop in RCC, promoting metabolic reprograming and tumor growth. 31289360 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 Biomarker disease BEFREE A small molecule inhibitor that binds to HIF-2α and blocks dimerization with HIF-1β is in clinical trials for the treatment of renal cell carcinoma. 30625281 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 AlteredExpression disease BEFREE Taken together, the findings of this study suggest that the protein levels of HIF2A and VEGFA in tumor tissue may serve as independent prognostic factors in ccRCC. ccRCC patients with increased intratumoral HIF2A and VEGFA protein levels, and unaltered VHL protein levels, are not likely to benefit from sunitinib treatment following nephrectomy; however, this hypothesis requires verification by large‑scale replication studies. 31268155 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 Biomarker disease BEFREE We demonstrated that ccRCC patients with HIF-2α<sup>high</sup> tumors exhibited reduced overall survival (p = 0.025) and recurrence-free survival (p < 0.001). 30758643 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 GeneticVariation disease BEFREE Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1). 31231134 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 Biomarker disease BEFREE In this review, we briefly discuss the role of HIF-2α in ccRCC and provide insight into recent advances in the discovery, development, and mode of action of HIF-2α allosteric inhibitors. 31541711 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 Biomarker disease BEFREE Everolimus resistance in clear cell renal cell carcinoma: miRNA-101 and HIF-2α as molecular triggers? 31267758 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 AlteredExpression disease BEFREE The drug blocks the HIF2α transcription factor and is being tested in a phase I/II trial for clear cell renal cell carcinoma. 31186237 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 Biomarker disease BEFREE Future study is warranted to determine if iron deprivation using chelator drugs provides an effective therapeutic strategy for targeting HIF-2α and suppressing tumor progression in ccRCC patients. 30553971 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 Biomarker disease BEFREE These findings support testing CDK4/6 inhibitors as treatments for ccRCC, alone and in combination with HIF-2α inhibitors. 31575731 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 AlteredExpression disease BEFREE Our first HIF-2α inhibitor PT2385 demonstrated promising proof of concept clinical activity in heavily pretreated advanced ccRCC patients. 31282155 2019
CUI: C0005612
Disease: Birth Weight
Birth Weight
0.100 GeneticVariation phenotype GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE Overall, these findings show the importance of understanding the regulation of HIF activity in a variety of breast cancer subtypes and points to the potential of targeting HIF-2α as a therapy for HER2-positive breast cancer. 30670058 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Based on these findings we propose that, as tumors evolve, the accumulation of SOD2<sup>K68Ac</sup> turns on a mitochondrial pathway to stemness that depends on HIF2α and may be relevant for the progression of breast cancer toward poor outcomes. 31591207 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE HIF-2α associated with poor cancer-specific survival, while HIF-1α and SNAIL1 did not associate with survival. 31339433 2019