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: C0009398
Disease: Color vision defect
Color vision defect 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 94 4 0.010 None 1.000 1 1990 1990
CUI: C0013604
Disease: Edema
Edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 0.300 None 1.000 1 2007 2007
CUI: C0015378
Disease: Extravasation of Contrast Media
Extravasation of Contrast Media 		phenotype Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function 6 0.300 None 1.000 1 2007 2007
CUI: C0151603
Disease: Anasarca
Anasarca 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.300 None 1.000 1 2007 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2009 2009
CUI: C0009676
Disease: Confusion
Confusion 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 75 5 0.100 None 0
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
CUI: C0030554
Disease: Paresthesia
Paresthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C0033687
Disease: Proteinuria
Proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.100 None 0
CUI: C0750292
Disease: Malabsorption of Vitamin B12
Malabsorption of Vitamin B12 		phenotype Finding 3 0.100 None 0
CUI: C1837352
Disease: Childhood onset
Childhood onset 		phenotype Finding 56 0.100 None 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.020 None 1.000 2 2003 2011
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases 		group Nervous System Diseases Disease or Syndrome 84 3 0.020 None 1.000 2 2008 2015
CUI: C0005956
Disease: Bone Marrow Diseases
Bone Marrow Diseases 		group Hemic and Lymphatic Diseases Disease or Syndrome 84 3 0.010 None 1.000 1 2015 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2005 2005
CUI: C0040580
Disease: Tracheal Diseases
Tracheal Diseases 		group Respiratory Tract Diseases Disease or Syndrome 155 1 0.010 None 1.000 1 1990 1990
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.010 None 1.000 1 2007 2007
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		group Eye Diseases Disease or Syndrome 49 24 0.010 None 1.000 1 2018 2018