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: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 134 0.300 None 1.000 1 2011 2011
CUI: C0021775
Disease: Intermittent Claudication
Intermittent Claudication 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 60 69 0.200 None 1.000 1 2011 2011
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 185 2 0.300 None 1.000 1 2011 2011
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 223 3 0.300 None 1.000 1 2011 2011
CUI: C0243038
Disease: Carcinoma, Lewis Lung
Carcinoma, Lewis Lung 		disease Neoplasms Neoplastic Process; Experimental Model of Disease 188 0.010 None 1.000 1 2011 2011
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		disease Neoplasms Neoplastic Process 385 8 0.010 None 1.000 1 2011 2011
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: 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: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 24 5 0.010 None 1.000 1 2012 2012
CUI: C0002351
Disease: Altitude Sickness
Altitude Sickness 		phenotype Respiratory Tract Diseases Disease or Syndrome 10 0.010 None 1.000 1 2012 2012
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: 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: C0238284
Disease: Acute mountain sickness
Acute mountain sickness 		disease Respiratory Tract Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 2012 2012
CUI: C0042345
Disease: Varicosity
Varicosity 		disease Cardiovascular Diseases Disease or Syndrome 188 51 0.010 None 1.000 1 2012 2012
CUI: C0035288
Disease: Reticuloendotheliosis, X-linked
Reticuloendotheliosis, X-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Neoplastic Process 48 1 0.010 None 1.000 1 2012 2012
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 423 112 0.200 None 1.000 1 2013 2013
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2013 2013
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2013 2013
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.010 None 1.000 1 2013 2013
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2013 2013
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 143 0.300 None 1.000 1 2013 2013
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2013 2013
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 472 112 0.010 None 1.000 1 2013 2013
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: C1301034
Disease: Pancreatic intraepithelial neoplasia
Pancreatic intraepithelial neoplasia 		disease Neoplasms Neoplastic Process 186 11 0.010 None 1.000 1 2013 2013