Source: ALL
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: C0221248
Disease: Tophus
Tophus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 14 3 0.010 None 1.000 1 2017 2017
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.060 None 1.000 6 1997 2016
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.020 None 1.000 2 2003 2012
CUI: C0265950
Disease: Venous malformation
Venous malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 3 0.010 None 1.000 1 2019 2019
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 39 7 0.010 None 1.000 1 2019 2019
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 65 19 0.800 None 0.982 57 16 1985 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.400 None 0.926 27 2000 2019
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.400 None 1.000 18 2000 2019
Familial hypercholesterolemia - homozygous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 72 0.100 None 1.000 18 2013 2020
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.100 None 1.000 17 1 2002 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.100 None 1.000 14 10 2007 2020
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.100 None 1.000 10 1 2003 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.090 None 1.000 9 2 2005 2015
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.260 None 1.000 7 1 2002 2017
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 11 0.070 None 1.000 7 2 2004 2019
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.070 None 1.000 7 2004 2017
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.060 None 1.000 6 2000 2006
Familial hypercholesterolemia - heterozygous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 34 0.060 None 0.833 6 2000 2017
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 434 17 0.060 None 1.000 6 2004 2011
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.050 None 1.000 5 2000 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.040 None 1.000 4 2000 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.040 None 0.750 4 1998 2006
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.040 None 1.000 4 2007 2011
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.040 None 1.000 4 1 2004 2019