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: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 3 2 2016 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 3 2 2016 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0236075
Disease: Menopausal symptom
Menopausal symptom 		phenotype Sign or Symptom 17 4 0.010 None 1.000 1 2019 2019
CUI: C0521857
Disease: Increased drug resistance
Increased drug resistance 		phenotype Disease or Syndrome 47 0.010 None 1.000 1 2016 2016
CUI: C0849640
Disease: skin damage
skin damage 		phenotype Sign or Symptom 64 0.010 None 1.000 1 2017 2017
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C1864389
Disease: PREMATURE CHROMATID SEPARATION TRAIT
PREMATURE CHROMATID SEPARATION TRAIT 		disease Disease or Syndrome 19 10 0.010 None 1.000 1 2017 2017
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2015 2015
CUI: C4048305
Disease: Neuroepithelioma
Neuroepithelioma 		disease Neoplastic Process 28 0.010 None 1.000 1 2003 2003
CUI: C4285772
Disease: Delayed ischaemic neurological deficit
Delayed ischaemic neurological deficit 		disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		disease Neoplastic Process 160 18 0.010 None 1.000 1 2014 2014
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None < 0.001 1 2019 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None < 0.001 1 2019 2019
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease Cardiovascular Diseases Disease or Syndrome 411 50 0.010 None 1.000 1 2019 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2019 2019
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 230 93 0.010 None 1.000 1 2019 2019
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
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: 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: 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: C0017205
Disease: Gaucher Disease
Gaucher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 143 82 0.080 None 0.875 8 2002 2019
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 21 182 0.020 None 1.000 2 2006 2011
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 48 124 0.020 None 1.000 2 2006 2013
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 21 48 0.010 None 1.000 1 2019 2019