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: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.100 None 0 1
CUI: C0040580
Disease: Tracheal Diseases
Tracheal Diseases 		group Respiratory Tract Diseases Disease or Syndrome 155 1 0.010 None 1.000 1 1990 1990
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases 		group Nervous System Diseases Disease or Syndrome 84 3 0.020 None 1.000 2 2008 2015
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.010 None 1.000 1 2014 2014
CUI: C0033687
Disease: Proteinuria
Proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.100 None 0
CUI: C0030554
Disease: Paresthesia
Paresthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C0027960
Disease: Nevus
Nevus 		disease Neoplasms Neoplastic Process 125 43 0.010 None 1.000 1 2006 2006
CUI: C0600467
Disease: Neurogenic Inflammation
Neurogenic Inflammation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Injury or Poisoning 18 0.300 None 1.000 2 2006 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2005 2005
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.010 None 1.000 1 2005 2005
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease Neoplasms Neoplastic Process 297 33 0.010 None 1.000 1 2006 2006
CUI: C1306856
Disease: Megaloblastic anemia due to inborn errors of metabolism
Megaloblastic anemia due to inborn errors of metabolism 		disease Hemic and Lymphatic Diseases Disease or Syndrome 3 0.300 None 1.000 2 2011 2015
CUI: C4016948
Disease: MEGALOBLASTIC ANEMIA 1, NORWEGIAN TYPE
MEGALOBLASTIC ANEMIA 1, NORWEGIAN TYPE 		disease Finding 1 2 0.100 None 0 2
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 68 0.770 None 1.000 13 25 2003 2018
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.020 None 1.000 2 2003 2011
CUI: C0750292
Disease: Malabsorption of Vitamin B12
Malabsorption of Vitamin B12 		phenotype Finding 3 0.100 None 0
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 2005 2005
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.300 None 1.000 1 2011 2011
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.010 None 1.000 1 2014 2014
CUI: C1394891
Disease: Intrinsic Factor Deficiency
Intrinsic Factor Deficiency 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 18 6 0.010 None 1.000 1 2012 2012
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.010 None 1.000 1 2014 2014
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		disease Nutritional and Metabolic Diseases Disease or Syndrome 19 9 0.010 None 1.000 1 2010 2010
CUI: C0015378
Disease: Extravasation of Contrast Media
Extravasation of Contrast Media 		phenotype Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function 6 0.300 None 1.000 1 2007 2007
CUI: C0013604
Disease: Edema
Edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 0.300 None 1.000 1 2007 2007