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: C0027814
Disease: Neuritis, Autoimmune, Experimental
Neuritis, Autoimmune, Experimental 		disease Immune System Diseases; Nervous System Diseases Experimental Model of Disease 32 0.200 None 1.000 1 2013 2013
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: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.020 None 1.000 2 2012 2014
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 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
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2014 2014
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 73 1 0.010 None 1.000 1 2014 2014
CUI: C0920646
Disease: Ischemia of kidney
Ischemia of kidney 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 131 0.010 None 1.000 1 2014 2014
CUI: C2930839
Disease: Bilateral pheochromocytoma and islet cell adenoma of the pancreas
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
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.010 None 1.000 1 2014 2014
CUI: C0024299
Disease: Lymphoma
Lymphoma 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.020 None 1.000 2 2008 2015
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 822 5 0.020 None 1.000 2 2010 2015
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 2015 2015
CUI: C0027659
Disease: Neoplasms, Experimental
Neoplasms, Experimental 		phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 95 0.010 None 1.000 1 2015 2015
CUI: C1858592
Disease: Carney Triad
Carney Triad 		disease Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 25 6 0.010 None 1.000 1 2015 2015
CUI: C4087504
Disease: Peritoneal dissemination
Peritoneal dissemination 		disease Neoplastic Process 170 0.010 None 1.000 1 2015 2015
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 172 19 0.010 None 1.000 1 2015 2015
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.010 None 1.000 1 2015 2015
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.010 None 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 184 32 0.010 None 1.000 1 2015 2015
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.010 None 1.000 1 2015 2015
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2015 2015
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease Neoplasms Neoplastic Process 633 22 0.010 None 1.000 1 2015 2015
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2015 2015
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2015 2015