EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
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: C0238284
Disease: Acute mountain sickness
Acute mountain sickness 		disease Respiratory Tract Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 2012 2012
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23 98 0.300 disputed 1.000 3 2013 2016
CUI: C0238478
Disease: Transient erythroblastopenia of childhood
Transient erythroblastopenia of childhood 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 0.010 None 1.000 1 2019 2019
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 24 5 0.010 None 1.000 1 2012 2012
CUI: C0272139
Disease: Erythrocytosis due to low atmospheric pressure
Erythrocytosis due to low atmospheric pressure 		disease Hemic and Lymphatic Diseases Disease or Syndrome 25 13 0.030 None 1.000 3 2 2014 2017
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		disease Hemic and Lymphatic Diseases Disease or Syndrome 25 3 0.010 None 1.000 1 2019 2019
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2014 2014
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 25 8 0.010 None 1.000 1 2017 2017
CUI: C1858592
Disease: Carney Triad
Carney Triad 		disease Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 25 6 0.010 None 1.000 1 2015 2015
CUI: C0279546
Disease: Adult Undifferentiated Pleomorphic Sarcoma
Adult Undifferentiated Pleomorphic Sarcoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2016 2016
CUI: C3899638
Disease: Childhood Undifferentiated Pleomorphic Sarcoma
Childhood Undifferentiated Pleomorphic Sarcoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2016 2016
CUI: C4543929
Disease: Primary osteosarcoma
Primary osteosarcoma 		disease Neoplasms Neoplastic Process 28 0.010 None 1.000 1 2016 2016
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 29 14 0.070 None 1.000 7 2008 2018
CUI: C0748168
Disease: Pulmonary Pathology
Pulmonary Pathology 		disease Disease or Syndrome 29 0.010 None 1.000 1 2010 2010
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 31 3 0.010 None 1.000 1 2007 2007
CUI: C0027814
Disease: Neuritis, Autoimmune, Experimental
Neuritis, Autoimmune, Experimental 		disease Immune System Diseases; Nervous System Diseases Experimental Model of Disease 32 0.200 None 1.000 1 2013 2013
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		disease Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 36 31 0.010 None 1.000 1 2019 2019
CUI: C0018932
Disease: Hematochezia
Hematochezia 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 37 12 0.010 None 1.000 1 2018 2018
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome 41 14 0.020 None 1.000 2 1 2012 2016
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 46 4 0.010 None 1.000 1 2012 2012
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5 0.010 None 1.000 1 2016 2016
CUI: C0035288
Disease: Reticuloendotheliosis, X-linked
Reticuloendotheliosis, X-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Neoplastic Process 48 1 0.010 None 1.000 1 2012 2012
CUI: C0848548
Disease: hypertensive nephropathy
hypertensive nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 2017 2017
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		disease Respiratory Tract Diseases Disease or Syndrome 56 45 0.010 None 1.000 1 2013 2013
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 56 38 0.010 None 1.000 1 2017 2017