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: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 CausalMutation disease CLINVAR
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 Biomarker disease CTD_human
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		0.100 Biomarker phenotype HPO
CUI: C0549448
Disease: Hemoglobin increased
Hemoglobin increased 		0.100 Biomarker phenotype HPO
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 Biomarker disease BEFREE EPAS1 was detected in all of the RCC cell lines examined. 11301389 2001
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.400 Biomarker disease BEFREE EPAS1 was detected in all of the RCC cell lines examined. 11301389 2001
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.100 AlteredExpression disease BEFREE Real-time quantitative reverse transcriptase (RT)-PCR measurements confirmed that vascular endothelial growth factor and endothelial PAS domain protein 1 mRNA levels were significantly higher (three- and sixfold, respectively) than those observed in three sporadic benign pheochromocytomas. 11605159 2001
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.100 AlteredExpression disease BEFREE Real-time quantitative reverse transcriptase (RT)-PCR measurements confirmed that vascular endothelial growth factor and endothelial PAS domain protein 1 mRNA levels were significantly higher (three- and sixfold, respectively) than those observed in three sporadic benign pheochromocytomas. 11605159 2001
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 Biomarker disease BEFREE These results suggest that components of the hypoxia response pathway, including HIF-1 alpha and HIF-2 alpha, are important cofactors in the regulation of VEGF in bladder cancer and are therapeutic targets in this disease. 11350893 2001
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 Biomarker disease BEFREE These results suggest that components of the hypoxia response pathway, including HIF-1 alpha and HIF-2 alpha, are important cofactors in the regulation of VEGF in bladder cancer and are therapeutic targets in this disease. 11350893 2001
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 Biomarker disease BEFREE These results suggest that components of the hypoxia response pathway, including HIF-1 alpha and HIF-2 alpha, are important cofactors in the regulation of VEGF in bladder cancer and are therapeutic targets in this disease. 11350893 2001
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease 		0.200 Biomarker disease MGD Loss of HIF-2alpha and inhibition of VEGF impair fetal lung maturation, whereas treatment with VEGF prevents fatal respiratory distress in premature mice. 12053176 2002
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.070 AlteredExpression disease BEFREE We showed that EPAS1, but not HIF-1alpha, is abundantly expressed in human lung adenocarcinoma A549 cells. 11751212 2002
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.060 AlteredExpression group LHGDN Association of hypoxia-inducible factors 1alpha and 2alpha with activated angiogenic pathways and prognosis in patients with endometrial carcinoma. 12209691 2002
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 Biomarker disease RGD Up-regulation of hypoxia-inducible factor 2alpha in renal cell carcinoma associated with loss of Tsc-2 tumor suppressor gene. 12750296 2003
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease 		0.200 Biomarker disease MGD Heterozygous deficiency of hypoxia-inducible factor-2alpha protects mice against pulmonary hypertension and right ventricular dysfunction during prolonged hypoxia. 12750401 2003
CUI: C0021308
Disease: Infarction
Infarction 		0.200 Biomarker phenotype RGD Cellular responses to hypoxia after renal segmental infarction. 12911537 2003
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.100 AlteredExpression disease LHGDN Upregulated hypoxia inducible factor-1alpha and -2alpha pathway in rheumatoid arthritis and osteoarthritis. 12823854 2003
CUI: C0025202
Disease: melanoma
melanoma 		0.040 AlteredExpression disease LHGDN Hypoxia-inducible factors 1alpha and 2alpha are related to vascular endothelial growth factor expression and a poorer prognosis in nodular malignant melanomas of the skin. 14512791 2003
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 AlteredExpression disease LHGDN Upregulated hypoxia inducible factor-1alpha and -2alpha pathway in rheumatoid arthritis and osteoarthritis. 12823854 2003
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 GeneticVariation disease LHGDN Effect of radiation and ibuprofen on normoxic renal carcinoma cells overexpressing hypoxia-inducible factors by loss of von Hippel-Lindau tumor suppressor gene function. 15217953 2004
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Biomarker disease RGD Persistent induction of HIF-1alpha and -2alpha in cardiomyocytes and stromal cells of ischemic myocardium. 15247145 2004
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 AlteredExpression phenotype BEFREE In this study, we sought to determine whether PAI-1 gene expression is directly regulated by EPAS1 in cancer cells because activities of proteases and their inhibitors are tightly regulated for tumor invasion. 15039136 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.100 AlteredExpression disease LHGDN HIF-2alpha/EPAS1 is expressed in most of HCC with capsular infiltration and portal vein invasion, which indicates a possible role of HIF-2alpha/EPAS1 in HCC metastasis. 14966910 2004
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.060 Biomarker group BEFREE The PAI-1 gene as a direct target of endothelial PAS domain protein-1 in adenocarcinoma A549 cells. 15039136 2004