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: C1378703
Disease: Renal carcinoma
Renal carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.070 None 1.000 7 2011 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.070 None 1.000 7 2014 2019
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 29 14 0.070 None 1.000 7 2008 2018
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.060 None 1.000 6 2013 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.060 None 1.000 6 2012 2019
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.060 None 1.000 6 2012 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.050 None 1.000 5 2015 2019
CUI: C0037661
Disease: Somatostatinoma
Somatostatinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 5 0.050 None 1.000 5 2012 2016
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 179 13 0.050 None 1.000 5 2011 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.050 None 1.000 5 2015 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.050 None 1.000 5 2010 2016
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.050 None 1.000 5 2015 2019
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.040 None 1.000 4 2005 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.040 None 0.750 4 2013 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.040 None 1.000 4 2010 2016
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.040 None 1.000 4 2003 2019
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 17 2 0.040 None 1.000 4 2008 2016
CUI: C0282193
Disease: Iron Overload
Iron Overload 		disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.040 None 1.000 4 2015 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.040 None 1.000 4 2018 2019
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 2 0.700 strong 1.000 4 2 2008 2012
CUI: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia 		disease Respiratory Tract Diseases Disease or Syndrome 14 0.040 None 1.000 4 2014 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.040 None 1.000 4 2012 2018
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.030 None 0.667 3 2016 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.030 None 1.000 3 2015 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.030 None 1.000 3 2017 2018