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: C0856816
Disease: Primary erythrocytosis
Primary erythrocytosis 		disease Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C4743578
Disease: Unresectable Malignant Mesothelioma
Unresectable Malignant Mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2 0.010 None 1.000 1 2008 2008
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: C1527405
Disease: Erythrocytosis
Erythrocytosis 		phenotype Hemic and Lymphatic Diseases Finding 9 1 0.500 strong 1.000 2 2002 2006
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		phenotype Finding 9 1 0.100 None 0
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: C1527348
Disease: Brain Hypoxia
Brain Hypoxia 		phenotype Nervous System Diseases Pathologic Function 12 0.200 None 1.000 2 2011 2013
CUI: C1142276
Disease: Renal anemia
Renal anemia 		disease Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C0280725
Disease: Adult Cholangiocarcinoma
Adult Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 13 0.200 None 1.000 1 2013 2013
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: C1868950
Disease: Multiple myeloma progression
Multiple myeloma progression 		disease Neoplastic Process 17 0.010 None 1.000 1 2016 2016
CUI: C0678128
Disease: Friend leukemia
Friend leukemia 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 1997 1997
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: C0040038
Disease: Thromboembolism
Thromboembolism 		phenotype Cardiovascular Diseases Pathologic Function 25 3 0.100 None 0
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: 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: 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: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease Hemic and Lymphatic Diseases Neoplastic Process 36 3 0.010 None 1.000 1 1996 1996
CUI: C0206717
Disease: Olfactory Neuroblastoma
Olfactory Neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 38 0.010 None 1.000 1 2008 2008
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		disease Pathological Conditions, Signs and Symptoms Pathologic Function 44 1 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: C1959635
Disease: Parvovirus B19 (disease)
Parvovirus B19 (disease) 		disease Disease or Syndrome 59 0.010 None 1.000 1 2010 2010
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: 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: C0279593
Disease: Adult B Acute Lymphoblastic Leukemia
Adult B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 74 0.010 None 1.000 1 2014 2014