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: 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 1998 1998
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 18 0.010 None 1.000 1 2002 2002
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.010 None 1.000 1 2002 2002
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 14 11 0.010 None 1.000 1 2002 2002
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.010 None 1.000 1 2003 2003
CUI: C0206064
Disease: Microvascular Angina
Microvascular Angina 		disease Cardiovascular Diseases Disease or Syndrome 39 10 0.020 None 1.000 2 2002 2004
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.010 None 1.000 1 2004 2004
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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2005 2005
CUI: C0029591
Disease: Other disorders of lipoid metabolism
Other disorders of lipoid metabolism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.200 None 1.000 1 2007 2007
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: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 114 7 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: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.220 None 0.667 3 2006 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.020 None 1.000 2 2003 2008
CUI: C0003130
Disease: Anoxia
Anoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.010 None 1.000 1 2008 2008
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.200 None 1.000 1 2008 2008
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.020 None 1.000 2 2003 2009
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.020 None 1.000 2 2004 2009
CUI: C0022638
Disease: Ketosis
Ketosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 119 11 0.010 None 1.000 1 1 2009 2009
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 144 12 0.200 None 1.000 1 2009 2009
CUI: C0029445
Disease: Bone necrosis
Bone necrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 23 5 0.010 None 1.000 1 2009 2009
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Ketosis-Prone 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 57 4 0.010 None < 0.001 1 1 2009 2009
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2010 2010
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2010 2010