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: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.120 None 1.000 2 1 2003 2005
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: 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: 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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 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: C0020580
Disease: Hypesthesia
Hypesthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.010 None 1.000 1 2014 2014
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.300 None 1.000 1 2011 2011
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 2005 2005
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2005 2005
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.010 None 1.000 1 2005 2005
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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2005 2005
CUI: C0027960
Disease: Nevus
Nevus
disease Neoplasms Neoplastic Process 125 43 0.010 None 1.000 1 2006 2006
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus
disease Neoplasms Neoplastic Process 297 33 0.010 None 1.000 1 2006 2006
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: 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: C0040580
Disease: Tracheal Diseases
Tracheal Diseases
group Respiratory Tract Diseases Disease or Syndrome 155 1 0.010 None 1.000 1 1990 1990
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.100 None 0 1
CUI: C0151603
Disease: Anasarca
Anasarca
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.300 None 1.000 1 2007 2007
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.080 None 1.000 8 1981 2019
CUI: C0242225
Disease: Color blindness
Color blindness
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 1990 1990