EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 153; N. variants: 25
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: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Neoplastic Process 2089 36 0.070 1.000 7 2011 2018
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplastic Process 1655 87 0.060 1.000 6 2007 2016
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplastic Process 839 9 0.050 1.000 5 2002 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Neoplastic Process 2090 240 0.050 1.000 5 2011 2017
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Neoplastic Process 2377 364 0.040 1.000 4 2011 2017
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
disease Neoplastic Process 499 18 0.040 1.000 4 2003 2014
CUI: C0154040
Disease: Benign neoplasm of adrenal gland
Benign neoplasm of adrenal gland
disease Neoplastic Process 22 0.300 disputed 3 2013 2016
Benign neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 disputed 3 2013 2016
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
disease Disease or Syndrome 62 8 0.030 1.000 3 2011 2016
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
disease Neoplastic Process 21 0.300 disputed 3 2013 2016
Malignant neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 disputed 3 2013 2016
Secondary malignant neoplasm of lymph node
disease Neoplastic Process 1270 66 0.020 1.000 2 2014 2016
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis
phenotype Neoplastic Process 510 2 0.020 1.000 2 2011 2015
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.010 1.000 1 2012 2012
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
disease Disease or Syndrome 201 0.010 1.000 1 2012 2012
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness
disease Disease or Syndrome 11 0.010 1.000 1 2012 2012
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group Disease or Syndrome 126 2 0.010 1.000 1 2013 2013
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness
disease Disease or Syndrome 7 1 0.010 1.000 1 2012 2012
Liver and Intrahepatic Biliary Tract Carcinoma
disease Neoplastic Process 606 18 0.010 1.000 1 2016 2016
CUI: C0279822
Disease: recurrent pheochromocytoma
recurrent pheochromocytoma
disease Neoplastic Process 1 0.010 1.000 1 2017 2017
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease Neoplastic Process 266 4 0.010 1.000 1 2015 2015
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue
disease Neoplastic Process 152 0.010 < 0.001 1 2011 2011
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts
phenotype Disease or Syndrome 14 2 0.010 1.000 1 2012 2012
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplastic Process 1041 61 0.010 1.000 1 2017 2017
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
disease Neoplastic Process 729 12 0.010 1.000 1 2016 2016