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: C0373721
Disease: Selenium measurement
Selenium measurement 		phenotype Laboratory Procedure 7 17 0.100 None 1.000 1 3 2015 2015
CUI: C0455308
Disease: Serum selenium measurement
Serum selenium measurement 		phenotype Laboratory Procedure 5 8 0.100 None 1.000 1 2 2013 2013
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.010 None < 0.001 1 1 2017 2017
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.010 None 1.000 1 2011 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2016 2016
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.040 None 1.000 4 1 2003 2012
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.020 None 1.000 2 1 2003 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.020 None 1.000 2 2 2003 2012
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2003 2003
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.010 None < 0.001 1 2000 2000
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.300 None 1.000 1 2014 2014
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2 2017 2017
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 146 349 0.300 None 1.000 1 2013 2013
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 0.300 None 1.000 1 2013 2013
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.010 None 1.000 1 2019 2019
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.020 None 1.000 2 2005 2011
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.010 None 1.000 1 2019 2019
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.010 None 1.000 1 2019 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.340 None 0.800 5 1 2003 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.030 None 1.000 3 1 2012 2013
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.030 None 0.667 3 1 2003 2009
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2006 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 1 2006 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 1 2006 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 1 2006 2006