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: C4540434
Disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		disease Disease or Syndrome 1 5 0.600 None 1.000 3 5 2011 2017
CUI: C1291575
Disease: Deficiency of citrate(si)-synthase
Deficiency of citrate(si)-synthase 		disease Disease or Syndrome 1 0.020 None 1.000 2 2017 2018
CUI: C0543641
Disease: Megaloblastic anemia, secondary
Megaloblastic anemia, secondary 		disease Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C4024948
Disease: Anterior encephalocele
Anterior encephalocele 		disease Congenital Abnormality 3 5 0.010 None 1.000 1 1 2017 2017
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 6 0.300 None 1.000 1 2006 2006
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin 		phenotype Finding 7 0.100 None 0
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 2 0.600 limited 1.000 3 2 1998 2006
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 12 0.300 None 1.000 1 2005 2005
CUI: C0027902
Disease: Neuropsychological Tests
Neuropsychological Tests 		phenotype Diagnostic Procedure 12 24 0.100 None 1.000 1 1 2009 2009
CUI: C0008412
Disease: Choline Deficiency
Choline Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 16 4 0.010 None 1.000 1 2005 2005
CUI: C0004093
Disease: Asthenia
Asthenia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 16 3 0.100 None 0
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.120 None 1.000 2 2015 2017
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 2 2002 2006
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 2 2002 2006
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 2 2002 2006
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 29 0.300 None 1.000 2 2002 2006
CUI: C0702169
Disease: Acrania
Acrania 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 0.300 None 1.000 2 2002 2006
CUI: C1692886
Disease: Arthritis, Bacterial
Arthritis, Bacterial 		group Infections; Musculoskeletal Diseases Disease or Syndrome 34 0.100 None 0
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 0.300 None 1.000 2 2002 2006
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 41 2 0.300 None 1.000 2 2002 2006
CUI: C0266453
Disease: Exencephaly
Exencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 47 0.300 None 1.000 2 2002 2006
CUI: C0023980
Disease: Longevity
Longevity 		phenotype Temporal Concept 48 74 0.100 None 1.000 1 1 2018 2018
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		disease Congenital Abnormality 51 45 0.020 None 1.000 2 1 2012 2012
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer 		disease Neoplastic Process 51 18 0.010 None 1.000 1 2013 2013
CUI: C0002902
Disease: Anencephaly
Anencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 59 10 0.010 None 1.000 1 1 2016 2016