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: 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: C1318533
Disease: Secondary polycythemia
Secondary polycythemia
disease Disease or Syndrome 15 5 0.300 0
CUI: C0747845
Disease: early pregnancy
early pregnancy
phenotype Disease or Syndrome 128 4 0.010 1.000 1 2000 2000
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
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.010 1.000 1 2001 2001
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplastic Process 1161 165 0.010 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 11 0.200 2 2002 2003
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1832 1878 0.010 1 2003 2003
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 150 2 0.200 1 2005 2005
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms
group Neoplasms Neoplastic Process 106 11 0.010 1 2006 2006
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 309 8 0.200 1 2006 2006
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.020 2 2005 2007
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: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 740 44 0.010 1 2007 2007
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 817 636 0.010 1 2007 2007
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: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.060 6 2004 2008
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 1711 67 0.050 1.000 5 2002 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.010 1 2008 2008
Diabetes Mellitus, Non-Insulin-Dependent
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1671 1522 0.200 1 2008 2008
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 487 37 0.200 1 2008 2008
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 123 4 0.010 1 2008 2008
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.200 2 2005 2009
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 63 21 0.010 1.000 1 2009 2009