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: C0015826
Disease: Fenestration (morphologic abnormality)
Fenestration (morphologic abnormality) 		disease Acquired Abnormality 43 0.010 None 1.000 1 2017 2017
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: 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: C0032461
Disease: Polycythemia
Polycythemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 82 22 0.360 strong 1.000 7 1 2007 2016
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: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		disease Respiratory Tract Diseases Disease or Syndrome 56 45 0.040 None 1.000 4 1 2010 2015
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.030 None 1.000 3 2010 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.220 None 1.000 3 2012 2017
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome 41 14 0.030 None 1.000 3 4 2012 2018
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.020 None 1.000 2 2010 2018
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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.210 None 1.000 2 2006 2013
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.020 None 1.000 2 2012 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 2016 2018
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: C0947751
Disease: Vascular inflammations
Vascular inflammations 		phenotype Cardiovascular Diseases Disease or Syndrome 305 3 0.020 None 1.000 2 2019 2020
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: C0002351
Disease: Altitude Sickness
Altitude Sickness 		phenotype Respiratory Tract Diseases Disease or Syndrome 10 0.010 None 1.000 1 2012 2012
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2012 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2012 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2019 2019
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.010 None 1.000 1 2007 2007
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2011 2011
CUI: C0014335
Disease: Enteritis
Enteritis 		disease Digestive System Diseases Disease or Syndrome 85 2 0.010 None 1.000 1 2018 2018
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.010 None 1.000 1 2018 2018