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: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplasms Neoplastic Process 2247 151 0.050 None 1.000 5 2015 2019
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.040 None 1.000 4 2003 2019
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplasms Neoplastic Process 1145 24 0.040 None 1.000 4 2007 2018
CUI: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia
disease Respiratory Tract Diseases Disease or Syndrome 14 0.040 None 1.000 4 2014 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.040 None 0.750 4 2013 2018
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: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.040 None 1.000 4 2017 2019
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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.040 None 0.750 4 2008 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
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.040 None 1.000 4 2012 2018
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: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.040 None 1.000 4 2005 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.030 None 1.000 3 2018 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
Erythrocytosis due to low atmospheric pressure
disease Hemic and Lymphatic Diseases Disease or Syndrome 25 13 0.030 None 1.000 3 2 2014 2017
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.030 None 1.000 3 2005 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.030 None 1.000 3 2018 2019
Clear-cell metastatic renal cell carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 260 11 0.030 None 1.000 3 2016 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.030 None 1.000 3 2011 2018
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.030 None 1.000 3 1 2010 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.030 None 1.000 3 2011 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: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.030 None 1.000 3 2009 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.030 None 1.000 3 2017 2019