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.
Other disorders of lipoid metabolism
disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.200 None 1.000 1 2007 2007
CUI: C0239549
Disease: Fat intolerance
Fat intolerance
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.010 None 1.000 1 2013 2013
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia
disease Disease or Syndrome 10 3 0.010 None 1.000 1 2002 2002
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 11 20 0.010 None 1.000 1 2018 2018
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
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: C0920563
Disease: Insulin Sensitivity
Insulin Sensitivity
phenotype Nutritional and Metabolic Diseases Pathologic Function 62 0.300 None 1.000 1 2010 2010
CUI: C0003175
Disease: Anthrax disease
Anthrax disease
disease Infections Disease or Syndrome 66 3 0.010 None 1.000 1 2019 2019
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: 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: 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: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 74 20 0.010 None 1.000 1 2 2012 2012
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure
phenotype Diagnostic Procedure 88 252 0.100 None 1.000 1 1 2013 2013
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index
phenotype Finding 88 252 0.100 None 1.000 1 1 2013 2013
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
Metastatic non-small cell lung cancer
disease Neoplasms Neoplastic Process 106 11 0.010 None 1.000 1 2015 2015
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder)
disease Disease or Syndrome 106 0.010 None 1.000 1 2019 2019
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis
disease Cardiovascular Diseases Disease or Syndrome 111 20 0.010 None 1.000 1 2019 2019
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 113 22 0.010 None 1.000 1 2016 2016
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.300 None 1.000 1 2010 2010
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation
phenotype Pathological Conditions, Signs and Symptoms Finding 166 0.300 None 1.000 1 2011 2011
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.010 None 1.000 1 2018 2018
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 203 1423 0.310 None 1.000 2 2002 2018
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: 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