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: C1853286
Disease: Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 3 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 3 0.700 strong 1.000 2 3 2006 2007
CUI: C0268641
Disease: Amino acid transport disorder
Amino acid transport disorder 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.010 None 1.000 1 1997 1997
CUI: C1853288
Disease: Increased red blood cell mass
Increased red blood cell mass 		phenotype Hemic and Lymphatic Diseases Finding 4 0.100 None 0
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		phenotype Finding 7 1 0.100 None 0
CUI: C0549448
Disease: Hemoglobin increased
Hemoglobin increased 		phenotype Neoplasms; Hemic and Lymphatic Diseases Finding 7 0.100 None 0
CUI: C0585129
Disease: Retroperitoneal sarcoma
Retroperitoneal sarcoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2010 2010
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm 		disease Neoplasms Neoplastic Process 8 3 0.010 None < 0.001 1 2012 2012
CUI: C0002351
Disease: Altitude Sickness
Altitude Sickness 		phenotype Respiratory Tract Diseases Disease or Syndrome 10 0.010 None 1.000 1 2012 2012
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		disease Nervous System Diseases Disease or Syndrome 11 16 0.010 None 1.000 1 2016 2016
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 12 16 0.020 None 1.000 2 1997 1997
CUI: C0030422
Disease: Extra-Adrenal Paraganglioma
Extra-Adrenal Paraganglioma 		disease Neoplasms Neoplastic Process 12 0.010 None < 0.001 1 2012 2012
CUI: C0948249
Disease: Femoral artery occlusion
Femoral artery occlusion 		disease Cardiovascular Diseases Disease or Syndrome 12 0.010 None 1.000 1 2013 2013
CUI: C4045968
Disease: Altitude Hypoxia
Altitude Hypoxia 		disease Respiratory Tract Diseases Disease or Syndrome 14 0.010 None 1.000 1 2011 2011
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 17 2 0.080 None 0.875 8 1 2006 2012
CUI: C4749274
Disease: Chuvash erythrocytosis
Chuvash erythrocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 17 2 0.010 None 1.000 1 2013 2013
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness 		disease Respiratory Tract Diseases Disease or Syndrome 21 3 0.020 None 1.000 2 2012 2014
CUI: C1512694
Disease: Increased Cellularity Present
Increased Cellularity Present 		disease Neoplastic Process 21 0.010 None 1.000 1 2018 2018
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23 98 0.300 moderate 1.000 6 2006 2015
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 24 5 0.010 None 1.000 1 1 2012 2012
CUI: C0349658
Disease: Trichoepithelioma
Trichoepithelioma 		disease Neoplasms Neoplastic Process 24 3 0.010 None 1.000 1 2014 2014
CUI: C0233532
Disease: Maladaptive behavior associated with physical illness
Maladaptive behavior associated with physical illness 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 26 0.010 None 1.000 1 2013 2013
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 29 14 0.080 None 0.875 8 1 2006 2012
CUI: C0149504
Disease: Encephalopathy, Toxic
Encephalopathy, Toxic 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2018 2018
CUI: C0154659
Disease: Toxic Encephalitis
Toxic Encephalitis 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2018 2018
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 38 0.010 None 1.000 1 1997 1997