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: C1318533
Disease: Secondary polycythemia
Secondary polycythemia
disease Disease or Syndrome 15 5 0.300 0
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased
phenotype Finding 5 0.100 0
CUI: C0549448
Disease: Hemoglobin increased
Hemoglobin increased
phenotype Finding 6 0.100 0
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 127 0.300 1 2011 2011
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 168 2 0.300 1 2011 2011
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 148 1 0.300 1 2011 2011
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 130 0.300 1 2013 2013
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 1 2013 2013
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 1 2013 2013
Collecting Duct Carcinoma of the Kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 137 0.300 1 2011 2011
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 309 8 0.200 1 2006 2006
Diabetes Mellitus, Non-Insulin-Dependent
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1671 1522 0.200 1 2008 2008
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 150 2 0.200 1 2005 2005
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 487 37 0.200 1 2008 2008
CUI: C0021775
Disease: Intermittent Claudication
Intermittent Claudication
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 28 4 0.200 1 2012 2012
CUI: C0920646
Disease: Ischemia of kidney
Ischemia of kidney
disease Disease or Syndrome 98 0.010 1.000 1 2014 2014
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 102 6 0.010 1.000 1 2016 2016
CUI: C0042345
Disease: Varicosity
Varicosity
disease Cardiovascular Diseases Disease or Syndrome 75 34 0.010 1.000 1 2012 2012
CUI: C0747845
Disease: early pregnancy
early pregnancy
phenotype Disease or Syndrome 128 4 0.010 1.000 1 2000 2000
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 817 636 0.010 1 2007 2007
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 63 21 0.010 1.000 1 2009 2009
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 209 368 0.010 1.000 1 2016 2016
CUI: C0748168
Disease: Pulmonary Pathology
Pulmonary Pathology
disease Disease or Syndrome 14 0.010 1.000 1 2010 2010
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.010 1.000 1 2017 2017
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma
disease Neoplasms Neoplastic Process 74 2 0.010 1.000 1 2016 2016