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: 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
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness
disease Disease or Syndrome 11 0.010 1.000 1 2012 2012
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 1711 67 0.050 1.000 5 2002 2008
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease Neoplastic Process 266 4 0.010 1.000 1 2015 2015
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1187 428 0.020 1.000 2 1 2002 2015
CUI: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia
disease Respiratory Tract Diseases Disease or Syndrome 3 0.030 1.000 3 2015 2017
CUI: C0002351
Disease: Altitude Sickness
Altitude Sickness
phenotype Respiratory Tract Diseases Disease or Syndrome 7 0.020 1.000 2 2012 2016
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 489 44 0.030 1.000 3 2013 2016
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 230 113 0.010 1.000 1 2016 2016
CUI: C1510885
Disease: Angiogenic Switch
Angiogenic Switch
disease Neoplastic Process 74 0.010 1.000 1 2015 2015
CUI: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.060 6 2004 2008
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 740 44 0.010 1 2007 2007
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 1 2013 2013
CUI: C0154040
Disease: Benign neoplasm of adrenal gland
Benign neoplasm of adrenal gland
disease Neoplastic Process 22 0.300 disputed 3 2013 2016
Benign neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 disputed 3 2013 2016
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: C0005411
Disease: Biliary Atresia
Biliary Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 104 17 0.010 1.000 1 2016 2016
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1216 142 0.010 1.000 1 2001 2001
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 263 4 0.010 1.000 1 2007 2007
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 645 163 0.010 1.000 1 2015 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.060 0.833 6 2003 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.100 0.917 12 2011 2016
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplastic Process 1161 165 0.010 1.000 1 2001 2001
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplastic Process 2475 735 0.010 1.000 1 1 2015 2015
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