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: C2363741
Disease: HIV-1 infection
HIV-1 infection
disease Disease or Syndrome 695 94 0.040 None 1.000 4 1997 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 0.667 3 2000 2017
CUI: C2062441
Disease: Influenza A
Influenza A
disease Disease or Syndrome 563 19 0.030 None 0.667 3 2001 2018
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
group Disease or Syndrome 188 9 0.020 None 1.000 2 2017 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.020 None 0.500 2 1995 2003
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 467 14 0.010 None 1.000 1 2011 2011
Hantavirus infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 21 1 0.010 None 1.000 1 2020 2020
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 2005 2005
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2019 2019
CUI: C1710016
Disease: Satellite Nodule
Satellite Nodule
disease Neoplastic Process 10 0.010 None 1.000 1 2000 2000
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE
disease Neoplastic Process 350 19 0.010 None 1.000 1 2004 2004
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 1997 1997
CUI: C4324298
Disease: Tumour inflammation
Tumour inflammation
disease Disease or Syndrome 24 0.010 None 1.000 1 2019 2019
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer
disease Neoplastic Process 160 18 0.010 None 1.000 1 2019 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2018 2018
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
group Cardiovascular Diseases Disease or Syndrome 319 128 0.010 None 1.000 1 2015 2015
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 115 14 0.010 None 1.000 1 2016 2016
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.010 None 1.000 1 2001 2001
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 43 255 0.010 None 1.000 1 2009 2009
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.020 None 1.000 2 2001 2004
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.010 None 1.000 1 2003 2003
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.010 None 1.000 1 2003 2003
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 1 2015 2015
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
disease Digestive System Diseases Disease or Syndrome 122 34 0.010 None 1.000 1 2002 2002