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: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms
group Neoplasms Neoplastic Process 124 11 0.010 None 1.000 1 2005 2005
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: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2005 2005
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: 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: C1527405
Disease: Erythrocytosis
Erythrocytosis
phenotype Hemic and Lymphatic Diseases Finding 9 1 0.500 strong 1.000 2 2002 2006
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function 193 0.300 None 1.000 1 2006 2006
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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.310 None 1.000 1 2006 2006
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 202 14 0.300 None 1.000 1 2006 2006
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.300 None 1.000 1 2006 2006
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: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 344 186 0.020 None 1.000 2 2005 2007
CUI: C0020507
Disease: Hyperplasia
Hyperplasia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 131 0.010 None 1.000 1 2007 2007
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: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease Eye Diseases Disease or Syndrome 148 10 0.200 None 1.000 1 2007 2007
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 2007 2007
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2007 2007
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2007 2007
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma
disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 131 3 0.010 None 1.000 1 2007 2007
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms
group Neoplasms; Endocrine System Diseases Neoplastic Process 104 9 0.010 None 1.000 1 2007 2007
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2007 2007
Prostatic Intraepithelial Neoplasias
disease Neoplasms Neoplastic Process 230 0.010 None 1.000 1 2008 2008
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
High-Grade Prostatic Intraepithelial Neoplasia
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 111 0.010 None 1.000 1 2008 2008