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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 GeneticVariation disease GWASDB A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. 22010048 2012
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 GeneticVariation disease GWASDB Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. 21131975 2011
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. 23090011 2013
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. 23533246 2013
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.400 Biomarker disease GENOMICS_ENGLAND Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.320 Biomarker disease GENOMICS_ENGLAND Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.320 Biomarker disease GENOMICS_ENGLAND Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 GeneticVariation disease UNIPROT A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 18184961 2008
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 GeneticVariation disease UNIPROT Two new mutations in the HIF2A gene associated with erythrocytosis. 22367913 2012
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 GeneticVariation disease UNIPROT Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. 19208626 2009
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 GeneticVariation disease UNIPROT Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
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: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.200 Therapeutic disease RGD Sildenafil alleviates bronchopulmonary dysplasia in neonatal rats by activating the hypoxia-inducible factor signaling pathway. 23065129 2013
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.200 Biomarker disease RGD Adaptation to hypoxia in the diabetic rat kidney. 17914354 2008
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.200 Therapeutic disease RGD Adaptation to hypoxia in the diabetic rat kidney. 17914354 2008
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.200 Therapeutic disease RGD Cobalt ameliorates renal injury in an obese, hypertensive type 2 diabetes rat model. 17967803 2008
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.200 Biomarker disease RGD Adaptation to hypoxia in the diabetic rat kidney. 17914354 2008
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.200 Biomarker phenotype RGD Differential expression of three hypoxia-inducible factor-alpha subunits in pulmonary arteries of rat with hypoxia-induced hypertension. 16215633 2005
CUI: C0021308
Disease: Infarction
Infarction 		0.200 Biomarker phenotype RGD Cellular responses to hypoxia after renal segmental infarction. 12911537 2003
CUI: C0021775
Disease: Intermittent Claudication
Intermittent Claudication 		0.200 Therapeutic phenotype RGD Silencing of int6 gene restores function of the ischaemic hindlimb in a rat model of peripheral arterial disease. 21771896 2011
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.200 Biomarker group RGD Involvement of hypoxia-inducible transcription factors in polycystic kidney disease. 17322369 2007
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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Biomarker disease RGD Regional expression of the hypoxia-inducible factor (HIF) system and association with cardiomyocyte cell cycle re-entry after myocardial infarction in rats. 18484163 2008