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: C1510471
Disease: Vitamin Deficiency
Vitamin Deficiency 		group Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None < 0.001 1 2001 2001
CUI: C0376286
Disease: Avitaminosis
Avitaminosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None < 0.001 1 2001 2001
CUI: C1260403
Disease: prothrombin gene mutation
prothrombin gene mutation 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 23 5 0.030 None 0.667 3 2001 2002
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.030 None 0.667 3 1999 2002
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.010 None 1.000 1 2003 2003
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.020 None 1.000 2 2000 2004
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2004 2004
CUI: C0085129
Disease: Bronchial Hyperreactivity
Bronchial Hyperreactivity 		disease Respiratory Tract Diseases Disease or Syndrome 112 18 0.010 None 1.000 1 2004 2004
CUI: C0002792
Disease: anaphylaxis
anaphylaxis 		phenotype Immune System Diseases Disease or Syndrome 180 4 0.010 None 1.000 1 2004 2004
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.010 None 1.000 1 2004 2004
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 19 14 0.050 None 1.000 5 1985 2005
CUI: C0041948
Disease: Uremia
Uremia 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 2 0.010 None 1.000 1 2005 2005
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		disease Infections Disease or Syndrome 337 56 0.010 None 1.000 1 2005 2005
CUI: C0026766
Disease: Multiple Organ Failure
Multiple Organ Failure 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 25 0.010 None 1.000 1 2006 2006
CUI: C0003860
Disease: Arteritis
Arteritis 		phenotype Cardiovascular Diseases Pathologic Function 5 0.300 None 1.000 1 2006 2006
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 64 24 0.010 None 1.000 1 2006 2006
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 90 33 0.010 None 1.000 1 2006 2006
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 502 80 0.010 None 1.000 1 2006 2006
CUI: C0034189
Disease: Pyemia
Pyemia 		phenotype Pathological Conditions, Signs and Symptoms; Infections Pathologic Function 24 0.300 None 1.000 2 2002 2007
CUI: C4329969
Disease: Factor VIII Inactivation
Factor VIII Inactivation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2007 2007
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.010 None 1.000 1 2007 2007
CUI: C3164780
Disease: Clinical sepsis
Clinical sepsis 		phenotype Disease or Syndrome 5 0.010 None 1.000 1 2007 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 98 0.340 None 1.000 8 1996 2008
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.040 None 1.000 4 1999 2008
CUI: C0021368
Disease: Inflammation
Inflammation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.040 None 1.000 4 2004 2008