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: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 2 0.700 strong 1.000 4 2 2008 2012
CUI: C0154298
Disease: Acute posthaemorrhagic anaemia
Acute posthaemorrhagic anaemia
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0279822
Disease: recurrent pheochromocytoma
recurrent pheochromocytoma
disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C0948824
Disease: Anemia due to blood loss
Anemia due to blood loss
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
Iron deficiency anemia secondary to chronic blood loss
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1368041
Disease: Pancreatic Somatostatinoma
Pancreatic Somatostatinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 3 0.020 None 1.000 2 2012 2014
CUI: C1514915
Disease: Retinal hemangioblastoma
Retinal hemangioblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 3 0.010 None 1.000 1 2014 2014
Secondary Focal Segmental Glomerulosclerosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0037661
Disease: Somatostatinoma
Somatostatinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 5 0.050 None 1.000 5 2012 2016
Gastrointestinal vascular malformation
disease Disease or Syndrome 5 0.010 None 1.000 1 2016 2016
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased
phenotype Finding 7 1 0.100 None 0
CUI: C0549448
Disease: Hemoglobin increased
Hemoglobin increased
phenotype Neoplasms; Hemic and Lymphatic Diseases Finding 7 0.100 None 0
CUI: C0002351
Disease: Altitude Sickness
Altitude Sickness
phenotype Respiratory Tract Diseases Disease or Syndrome 10 0.010 None 1.000 1 2012 2012
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity)
phenotype Clinical Attribute 10 18 0.100 None 1.000 1 2 2017 2017
Bilateral pheochromocytoma and islet cell adenoma of the pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 10 0.010 None 1.000 1 2014 2014
Central Nervous System Embryonal Tumor, Not Otherwise Specified
disease Neoplasms Neoplastic Process 13 2 0.010 None 1.000 1 2017 2017
CUI: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia
disease Respiratory Tract Diseases Disease or Syndrome 14 0.040 None 1.000 4 2014 2019
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 15 0.200 None 1.000 2 2002 2003
CUI: C0021308
Disease: Infarction
Infarction
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 0.200 None 1.000 1 2003 2003
Non-Hereditary Clear Cell Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.010 None 1.000 1 2010 2010
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2013 2013
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2013 2013
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 17 2 0.040 None 1.000 4 2008 2016
CUI: C4749274
Disease: Chuvash erythrocytosis
Chuvash erythrocytosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 17 2 0.020 None 1.000 2 2011 2018
CUI: C4289709
Disease: DOCK8 Deficiency
DOCK8 Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 18 0.010 None 1.000 1 2017 2017