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: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.460 None 1.000 6 3 2007 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.050 None 1.000 5 2 2016 2019
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 5 2 2011 2019
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.110 None 1.000 4 3 2015 2019
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 78 3 0.510 None 1.000 3 2005 2007
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.030 None 1.000 3 2017 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.110 None 1.000 3 2 2012 2019
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 48 16 0.130 None 1.000 3 5 2011 2014
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 3 3 2017 2019
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 267 80 0.030 None 1.000 3 2007 2016
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.020 None 0.500 2 2009 2015
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.020 None 0.500 2 2009 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.110 None 1.000 2 1 2017 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.020 None 0.500 2 2009 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2014 2018
CUI: C2239222
Disease: Vascular Endothelial Growth Factor Measurement
Vascular Endothelial Growth Factor Measurement 		phenotype Laboratory Procedure 12 46 0.100 None 1.000 2 7 2011 2016
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 4 2018 2018
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 103 10 0.020 None 0.500 2 2014 2019
CUI: C0243002
Disease: Tricuspid Atresia
Tricuspid Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 18 1 0.210 None 1.000 2 2000 2005
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.020 None 1.000 2 2007 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.110 None 1.000 2 3 2018 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.020 None 1.000 2 2018 2020
CUI: C0206680
Disease: Mesothelioma, Cystic
Mesothelioma, Cystic 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2015 2015
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.010 None 1.000 1 2019 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018