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: C0003175
Disease: Anthrax disease
Anthrax disease
disease Infections Disease or Syndrome 66 3 0.010 None 1.000 1 2019 2019
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2017 2017
CUI: C0007273
Disease: Carotid Artery Diseases
Carotid Artery Diseases
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 69 6 0.010 None 1.000 1 2003 2003
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections
group Infections Disease or Syndrome 462 26 0.010 None 1.000 1 2013 2013
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular
disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 212 32 0.010 None 1.000 1 2005 2005
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.010 None 1.000 1 2018 2018
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.010 None 1.000 1 2018 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.010 None 1.000 1 2018 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.200 None 1.000 1 2005 2005
CUI: C0023794
Disease: Lipoidosis
Lipoidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 0.200 None 1.000 1 2007 2007
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2013 2013
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2017 2017
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 73 5 0.010 None 1.000 1 3 2008 2008
CUI: C0027720
Disease: Nephrosis
Nephrosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 68 0.200 None 1.000 1 2009 2009
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 25 23 0.010 None 1.000 1 2007 2007
Other disorders of lipoid metabolism
disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.200 None 1.000 1 2007 2007
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.010 None 1.000 1 1 2014 2014
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.010 None 1.000 1 2007 2007
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 649 224 0.010 None 1.000 1 2018 2018
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 113 22 0.010 None 1.000 1 2016 2016
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
group Nutritional and Metabolic Diseases Disease or Syndrome 95 10 0.010 None < 0.001 1 2017 2017
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis
disease Cardiovascular Diseases Disease or Syndrome 111 20 0.010 None 1.000 1 2019 2019
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.200 None 1.000 1 2009 2009
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia
disease Disease or Syndrome 10 3 0.010 None 1.000 1 2002 2002
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.010 None 1.000 1 2 2014 2014