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: C0154286
Disease: Iron deficiency anemia secondary to chronic blood loss
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: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20 0.010 None 1.000 1 2011 2011
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness 		disease Respiratory Tract Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 2012 2012
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2016 2016
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: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2018 2018
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated 		disease Neoplasms Neoplastic Process 95 0.010 None 1.000 1 2016 2016
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2019 2019
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 24 5 0.010 None 1.000 1 2012 2012
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		disease Hemic and Lymphatic Diseases Disease or Syndrome 25 3 0.010 None 1.000 1 2019 2019
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.010 None 1.000 1 2019 2019
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.010 None 1.000 1 2013 2013
CUI: C0243038
Disease: Carcinoma, Lewis Lung
Carcinoma, Lewis Lung 		disease Neoplasms Neoplastic Process; Experimental Model of Disease 188 0.010 None 1.000 1 2011 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.010 None 1.000 1 2019 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2017 2017
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: C0238478
Disease: Transient erythroblastopenia of childhood
Transient erythroblastopenia of childhood 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 0.010 None 1.000 1 2019 2019
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 161 5 0.010 None 1.000 1 2018 2018
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.010 None 1.000 1 2016 2016
CUI: C3887678
Disease: Central Nervous System Embryonal Tumor, Not Otherwise Specified
Central Nervous System Embryonal Tumor, Not Otherwise Specified 		disease Neoplasms Neoplastic Process 13 2 0.010 None 1.000 1 2017 2017
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 382 6 0.010 None 1.000 1 2017 2017
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2018 2018
CUI: C2945695
Disease: Limb ischemia
Limb ischemia 		disease Disease or Syndrome 171 3 0.010 None 1.000 1 2016 2016
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: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.010 None 1.000 1 2017 2017