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: C0549448
Disease: Hemoglobin increased
Hemoglobin increased
phenotype Neoplasms; Hemic and Lymphatic Diseases Finding 7 0.100 None 0
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased
phenotype Finding 7 1 0.100 None 0
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: 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: 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: 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: 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
Collecting Duct Carcinoma of the Kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.300 None 1.000 1 2011 2011
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 156 0.200 None 1.000 1 2005 2005
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.200 None 1.000 1 2007 2007
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: 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
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.200 None 1.000 1 2008 2008
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.200 None 1.000 1 2006 2006
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.200 None 1.000 1 2008 2008
CUI: C0021308
Disease: Infarction
Infarction
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 0.200 None 1.000 1 2003 2003
CUI: C0027814
Disease: Neuritis, Autoimmune, Experimental
Neuritis, Autoimmune, Experimental
disease Immune System Diseases; Nervous System Diseases Experimental Model of Disease 32 0.200 None 1.000 1 2013 2013
CUI: C0005612
Disease: Birth Weight
Birth Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.100 None 1.000 1 1 2019 2019
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2018 2018
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity)
phenotype Clinical Attribute 10 18 0.100 None 1.000 1 2 2017 2017
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2018 2018
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2014 2014
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma
disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2018 2018