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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.020 None 1.000 2 2012 2016
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 1997 1997
CUI: C0010074
Disease: Coronary Vessel Anomalies
Coronary Vessel Anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 0.300 None 1.000 1 2003 2003
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 89 27 0.010 None 1.000 1 2016 2016
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 76 4 0.010 None 1.000 1 2019 2019
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 24 0.010 None 1.000 1 2000 2000
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		disease Congenital Abnormality 51 45 0.010 None 1.000 1 2014 2014
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 2 0.700 strong 1.000 6 2 1996 2016
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.040 None 1.000 4 1 2007 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.040 None 0.750 4 2000 2019
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.430 None 1.000 3 1999 2007
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 0.030 None 1.000 3 2006 2014
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.030 None 1.000 3 2017 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.320 None 1.000 3 2007 2019
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 501 26 0.030 None 1.000 3 2018 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.020 None 1.000 2 2002 2003
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.020 None 1.000 2 2002 2003
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2018 2018
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 35 111 0.020 None 1.000 2 1998 2017
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.320 None 1.000 2 2003 2011
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.020 None 1.000 2 1999 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.020 None 1.000 2 2019 2019
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.310 None 1.000 2 2005 2017
CUI: C0268523
Disease: Glutamate-cysteine ligase deficiency
Glutamate-cysteine ligase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 strong 1.000 2 1996 1999
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group Nutritional and Metabolic Diseases Disease or Syndrome 17 1 0.300 strong 1.000 2 1996 1999