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: 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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2001 2001
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2001 2001
Malignant neoplasm of urinary bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.010 None 1.000 1 2001 2001
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
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 156 0.200 None 1.000 1 2005 2005
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms
group Neoplasms Neoplastic Process 124 11 0.010 None 1.000 1 2006 2006
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.200 None 1.000 1 2006 2006
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.010 None 1.000 1 2007 2007
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: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 2007 2007
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.200 None 1.000 1 2007 2007
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.010 None 1.000 1 2007 2007
CUI: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.060 None 1.000 6 2004 2008
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.200 None 1.000 2 2004 2008
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.200 None 1.000 2 2008 2008
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.200 None 1.000 1 2008 2008
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.200 None 1.000 1 2008 2008
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 140 72 0.010 None 1.000 1 2008 2008
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: C0748168
Disease: Pulmonary Pathology
Pulmonary Pathology
disease Disease or Syndrome 29 0.010 None 1.000 1 2010 2010
Secondary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20 0.010 None 1.000 1 2011 2011
Collecting Duct Carcinoma of the Kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.300 None 1.000 1 2011 2011