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: C0398642
Disease: Montreal platelet syndrome
Montreal platelet syndrome
disease Disease or Syndrome 7 1 0.020 None 1.000 2 1979 1985
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease
phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29 0.020 None 1.000 2 2014 2017
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 4 0.020 None 1.000 2 2017 2017
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
disease Disease or Syndrome 695 94 0.020 None 1.000 2 2000 2016
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
disease Disease or Syndrome 3 4 0.700 None 1.000 2 2 2012 2018
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.010 None 1.000 1 2002 2002
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome
group Infections; Immune System Diseases Disease or Syndrome 243 42 0.010 None 1.000 1 2018 2018
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.010 None 1.000 1 2018 2018
CUI: C0001849
Disease: AIDS Dementia Complex
AIDS Dementia Complex
disease Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 45 4 0.010 None 1.000 1 2001 2001
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.010 None 1.000 1 2018 2018
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 345 10 0.010 None 1.000 1 2010 2010
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 118 32 0.010 None 1.000 1 2012 2012
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.010 None 1.000 1 1984 1984
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.010 None 1.000 1 2017 2017
CUI: C0009443
Disease: Common Cold
Common Cold
disease Infections; Respiratory Tract Diseases Disease or Syndrome 24 0.010 None 1.000 1 2012 2012
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2017 2017
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.010 None < 0.001 1 1987 1987
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.010 None 1.000 1 2018 2018
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer
disease Digestive System Diseases Disease or Syndrome 102 33 0.010 None 1.000 1 2015 2015
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.010 None < 0.001 1 1987 1987
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis
disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 143 29 0.010 None 1.000 1 2015 2015
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 38 0.010 None 1.000 1 2019 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 194 11 0.010 None 1.000 1 2019 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2019 2019
CUI: C0017609
Disease: Glaucoma, Neovascular
Glaucoma, Neovascular
disease Eye Diseases Disease or Syndrome 23 0.010 None 1.000 1 2019 2019