EPOR, erythropoietin receptor, 2057

N. diseases: 162; N. variants: 8
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: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.300 None 1.000 1 2009 2009
CUI: C0032461
Disease: Polycythemia
Polycythemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 82 22 0.500 None 1.000 15 2 1993 2018
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 29 14 0.800 strong 0.867 15 7 1993 2018
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 17 2 0.380 None 0.875 8 1994 2007
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.050 None 1.000 5 2017 2020
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.040 None 1.000 4 2008 2020
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.030 None 1.000 3 2018 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.220 None 1.000 3 2003 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2011 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.020 None 1.000 2 2008 2017
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 2018 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2018 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.020 None 1.000 2 2015 2018
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.020 None 1.000 2 2005 2016
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.020 None 1.000 2 2008 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2007 2007
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		group Nervous System Diseases Disease or Syndrome 345 10 0.010 None 1.000 1 2017 2017
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.200 None 1.000 1 2004 2004
CUI: C0010709
Disease: Cyst
Cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome 221 6 0.010 None 1.000 1 2005 2005
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 144 12 0.010 None 1.000 1 2010 2010
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.010 None 1.000 1 2003 2003
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.200 None 1.000 1 2008 2008
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 100 3 0.200 None 1.000 1 2014 2014
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.010 None 1.000 1 2018 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2009 2009