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: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID
disease Disease or Syndrome 1 9 0.700 strong 1.000 12 9 2009 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.300 None 0
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.110 None 1.000 4 2 2009 2014
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias
disease Nutritional and Metabolic Diseases Disease or Syndrome 49 7 0.110 None 1.000 1 1 2007 2007
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.100 None 0.962 26 1 2007 2020
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 36 64 0.100 None 1.000 10 2 2010 2019
CUI: C0813230
Disease: Serum triglycerides increased
Serum triglycerides increased
phenotype Nutritional and Metabolic Diseases Finding 5 6 0.100 None 1.000 4 2 2009 2014
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2018 2018
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
Familial hyperchylomicronemia syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 2 0.040 None 1.000 4 2014 2018
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease Digestive System Diseases Disease or Syndrome 502 80 0.020 None 1.000 2 1 2015 2020
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
disease Digestive System Diseases Disease or Syndrome 435 51 0.020 None 1.000 2 2018 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.020 None 1.000 2 2013 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.020 None 1.000 2 2018 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.020 None 1.000 2 2018 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2015 2019
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 2015 2019
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.010 None 1.000 1 2014 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2019 2019
CUI: C0947751
Disease: Vascular inflammations
Vascular inflammations
phenotype Cardiovascular Diseases Disease or Syndrome 305 3 0.010 None 1.000 1 2017 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2018 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2018 2018
CUI: C0267953
Disease: Necrosis of pancreas
Necrosis of pancreas
disease Digestive System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2019 2019