EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 153; N. variants: 25
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 2 0.600 4 2 2008 2012
CUI: C0279822
Disease: recurrent pheochromocytoma
recurrent pheochromocytoma
disease Neoplastic Process 1 0.010 1.000 1 2017 2017
CUI: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia
disease Respiratory Tract Diseases Disease or Syndrome 3 0.030 1.000 3 2015 2017
CUI: C1368041
Disease: Pancreatic Somatostatinoma
Pancreatic Somatostatinoma
disease Neoplastic Process 3 0.010 1.000 1 2012 2012
CUI: C0037661
Disease: Somatostatinoma
Somatostatinoma
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 5 0.030 1.000 3 2012 2013
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased
phenotype Finding 5 0.100 0
CUI: C0549448
Disease: Hemoglobin increased
Hemoglobin increased
phenotype Finding 6 0.100 0
CUI: C0002351
Disease: Altitude Sickness
Altitude Sickness
phenotype Respiratory Tract Diseases Disease or Syndrome 7 0.020 1.000 2 2012 2016
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness
disease Disease or Syndrome 7 1 0.010 1.000 1 2012 2012
Non-Hereditary Clear Cell Renal Cell Carcinoma
disease Neoplastic Process 10 0.010 1.000 1 2012 2012
CUI: C1858592
Disease: Carney Triad
Carney Triad
disease Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 10 6 0.010 1.000 1 2015 2015
Bilateral pheochromocytoma and islet cell adenoma of the pancreas
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 10 0.010 1.000 1 2015 2015
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 11 0.200 2 2002 2003
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness
disease Disease or Syndrome 11 0.010 1.000 1 2012 2012
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts
phenotype Disease or Syndrome 14 2 0.010 1.000 1 2012 2012
CUI: C0748168
Disease: Pulmonary Pathology
Pulmonary Pathology
disease Disease or Syndrome 14 0.010 1.000 1 2010 2010
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization
phenotype Eye Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 2 0.010 1 2007 2007
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia
disease Disease or Syndrome 15 5 0.300 0
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 1 2013 2013
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 1 2013 2013
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome 18 10 0.010 1.000 1 2012 2012
Benign neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 disputed 3 2013 2016
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
disease Neoplastic Process 21 0.300 disputed 3 2013 2016
Malignant neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 disputed 3 2013 2016
CUI: C0154040
Disease: Benign neoplasm of adrenal gland
Benign neoplasm of adrenal gland
disease Neoplastic Process 22 0.300 disputed 3 2013 2016