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: C0039292
Disease: Tangier Disease
Tangier Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 25 26 1.000 0.989 107 25 1999 2017
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 12 7 0.800 0.966 30 7 1995 2015
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 5 0.600 1.000 22 5 1999 2017
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.520 1.000 4 1 2003 2013
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 1 0.480 1.000 8 2003 2011
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1133 131 0.400 1.000 81 4 2000 2017
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 153 1189 0.350 1.000 6 1 2003 2012
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 239 63 0.350 1.000 6 2002 2018
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 152 182 0.340 1.000 5 1 2004 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.310 1.000 1 1 2014 2014
CUI: C3165209
Disease: High density lipoprotein deficiency
High density lipoprotein deficiency
disease Disease or Syndrome 2 5 0.300 6 5 1999 2005
CUI: C0751544
Disease: Tangier Disease Neuropathy
Tangier Disease Neuropathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 3 1999 2010
CUI: C3711531
Disease: Hdl Deficiency, Type 2
Hdl Deficiency, Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 2 1999 2001
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 436 101 0.300 1 2010 2010
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
group Nervous System Diseases Disease or Syndrome 308 66 0.300 1 2011 2011
CUI: C1563937
Disease: Atherogenesis
Atherogenesis
phenotype Cardiovascular Diseases Pathologic Function 54 0.300 1 2012 2012
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 3 0.300 1 2005 2005
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.300 1 2012 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.300 1 2012 2012
CUI: C0342898
Disease: Apolipoprotein A-I deficiency
Apolipoprotein A-I deficiency
phenotype Pathologic Function 3 3 0.300 0
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
phenotype Finding 8 130 0.300 0
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 231 26 0.220 1.000 3 1 2004 2015
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 442 24 0.210 1.000 2 2005 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 980 861 0.200 0.946 39 6 2001 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 912 760 0.200 0.967 33 9 2001 2016