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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 2001 2001
CUI: C0265808
Disease: Cyanotic congenital heart disease
Cyanotic congenital heart disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 14 0.010 None 1.000 1 2001 2001
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.010 None 1.000 1 2001 2001
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 65 22 0.010 None 1.000 1 2001 2001
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.020 None 1.000 2 1996 2003
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.010 None 1.000 1 2003 2003
CUI: C0019340
Disease: Herpes NOS
Herpes NOS 		disease Infections Disease or Syndrome 114 5 0.010 None 1.000 1 2003 2003
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.010 None 1.000 1 2003 2003
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.010 None 1.000 1 2003 2003
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.010 None 1.000 1 2003 2003
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.010 None 1.000 1 2006 2006
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2006 2006
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213 0.010 None 1.000 1 2006 2006
CUI: C0024282
Disease: Lymphocytosis
Lymphocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 78 1 0.010 None 1.000 1 2006 2006
CUI: C1959635
Disease: Parvovirus B19 (disease)
Parvovirus B19 (disease) 		disease Disease or Syndrome 59 0.010 None 1.000 1 2006 2006
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 2006 2006
CUI: C0020058
Disease: Howell-Jolly Bodies
Howell-Jolly Bodies 		disease Acquired Abnormality 5 0.010 None 1.000 1 2007 2007
CUI: C3666003
Disease: Transfusion dependent anaemia
Transfusion dependent anaemia 		disease Disease or Syndrome 6 0.010 None 1.000 1 2008 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.010 None 1.000 1 2008 2008
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 80 43 0.010 None 1.000 1 2008 2008
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 32 233 0.010 None 1.000 1 2008 2008
CUI: C0016952
Disease: Galactosemias
Galactosemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 29 16 0.010 None 1.000 1 2008 2008
CUI: C1504533
Disease: Post transplant erythrocytosis
Post transplant erythrocytosis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2008 2008
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		disease Musculoskeletal Diseases Congenital Abnormality 64 27 0.010 None 1.000 1 2009 2009
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 92 16 0.030 None 1.000 3 1988 2010