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.
Conventional (Clear Cell) Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 630 29 0.400 0.846 14 2011 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.100 0.917 12 2011 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.100 0.833 12 2011 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
disease Neoplasms Neoplastic Process 82 14 0.100 1.000 12 2007 2018
CUI: C0032461
Disease: Polycythemia
Polycythemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 74 17 0.100 1.000 10 2011 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.100 1.000 10 2004 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 279 125 0.090 1.000 9 2002 2018
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 2210 180 0.070 0.800 7 2005 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Neoplastic Process 2089 36 0.070 1.000 7 2011 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
group Neoplasms Neoplastic Process 1698 288 0.070 1.000 7 2005 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.060 0.833 6 2003 2017
CUI: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.060 6 2004 2008
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplastic Process 1655 87 0.060 1.000 6 2007 2016
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 118 130 0.060 1.000 6 2011 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 1711 67 0.050 1.000 5 2002 2008
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Neoplastic Process 2090 240 0.050 1.000 5 2011 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1845 136 0.050 1.000 5 2013 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1868 225 0.050 1.000 5 2013 2018
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplastic Process 839 9 0.050 1.000 5 2002 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.050 0.800 5 2003 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2000 135 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: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.040 1.000 4 2010 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 2397 341 0.040 1.000 4 2011 2017