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: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.060 6 2004 2008
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 2 0.600 4 2 2008 2012
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
disease Neoplastic Process 21 0.300 disputed 3 2013 2016
Malignant neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 disputed 3 2013 2016
Benign neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 disputed 3 2013 2016
CUI: C0154040
Disease: Benign neoplasm of adrenal gland
Benign neoplasm of adrenal gland
disease Neoplastic Process 22 0.300 disputed 3 2013 2016
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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.200 2 2005 2009
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.020 2 2005 2007
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: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 1 2013 2013
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 1 2013 2013
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: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 777 24 0.010 1 2009 2009
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: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms
group Neoplasms Neoplastic Process 106 11 0.010 1 2006 2006
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 817 636 0.010 1 2007 2007
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 150 2 0.200 1 2005 2005
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: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 168 2 0.300 1 2011 2011
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 127 0.300 1 2011 2011
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 148 1 0.300 1 2011 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.010 1 2008 2008
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 740 44 0.010 1 2007 2007