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: C0279822
Disease: recurrent pheochromocytoma
recurrent pheochromocytoma
disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
Adult Undifferentiated Pleomorphic Sarcoma
disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2016 2016
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 31 3 0.010 None 1.000 1 2007 2007
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma
disease Neoplasms Neoplastic Process 150 3 0.010 None 1.000 1 2016 2016
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: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx
disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None 1.000 1 2016 2016
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.010 None 1.000 1 2017 2017
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema
disease Respiratory Tract Diseases Disease or Syndrome 56 45 0.010 None 1.000 1 2013 2013
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic
disease Digestive System Diseases; Infections Disease or Syndrome 415 84 0.010 None 1.000 1 2 2016 2016
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2017 2017
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 46 4 0.010 None 1.000 1 2012 2012
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 462 2 0.010 None < 0.001 1 2011 2011
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 767 118 0.010 None 1.000 1 2012 2012
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm
disease Neoplasms Neoplastic Process 179 34 0.010 None 1.000 1 2019 2019
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.010 None 1.000 1 2019 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2019 2019
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided
disease Cardiovascular Diseases Disease or Syndrome 154 0.010 None 1.000 1 2018 2018
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma
disease Neoplastic Process 166 3 0.010 None 1.000 1 2016 2016
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma
disease Neoplastic Process 162 3 0.010 None 1.000 1 2016 2016
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma
disease Neoplasms Neoplastic Process 79 9 0.010 None 1.000 1 2016 2016
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 160 6 0.010 None 1.000 1 2018 2018
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 83 21 0.010 None 1.000 1 2019 2019
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5 0.010 None 1.000 1 2016 2016
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration
disease Musculoskeletal Diseases Disease or Syndrome 342 47 0.010 None 1.000 1 2019 2019
CUI: C0154298
Disease: Acute posthaemorrhagic anaemia
Acute posthaemorrhagic anaemia
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018