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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.200 None 1.000 1 2011 2011
CUI: C0034902
Disease: Pure Red-Cell Aplasia
Pure Red-Cell Aplasia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 49 7 0.010 None 1.000 1 2019 2019
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.010 None 1.000 1 2018 2018
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.200 None 1.000 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 202 16 0.200 None 1.000 1 2014 2014
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 60 2 0.200 None 1.000 1 2005 2005
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.010 None 1.000 1 2019 2019
CUI: C0238644
Disease: Anemia, severe
Anemia, severe 		disease Hemic and Lymphatic Diseases Disease or Syndrome 65 6 0.010 None 1.000 1 2001 2001
CUI: C0264694
Disease: Chronic myocardial ischemia
Chronic myocardial ischemia 		disease Cardiovascular Diseases Disease or Syndrome 29 7 0.010 None 1.000 1 2008 2008
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 27 118 0.010 None 1.000 1 2019 2019
CUI: C1142276
Disease: Renal anemia
Renal anemia 		disease Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 25 8 0.010 None 1.000 1 2016 2016
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		disease Male Urogenital Diseases Disease or Syndrome 770 91 0.010 None 1.000 1 2008 2008
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.010 None 1.000 1 2019 2019
CUI: C1959635
Disease: Parvovirus B19 (disease)
Parvovirus B19 (disease) 		disease Disease or Syndrome 59 0.010 None 1.000 1 2010 2010
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.010 None 1.000 1 2018 2018
CUI: C2267231
Disease: Chronic idiopathic neutropenia
Chronic idiopathic neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 10 0.010 None 1.000 1 2006 2006
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.200 None 1.000 1 2016 2016
CUI: C2349595
Disease: Fetal anemia
Fetal anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2016 2016
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.010 None 1.000 1 2005 2005
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2014 2014
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis 		phenotype Hemic and Lymphatic Diseases Finding 9 1 0.500 strong 1.000 2 2002 2006
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		phenotype Finding 9 1 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2018 2018