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: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 1.000 limited 0.929 14 5 2000 2018
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9
disease Disease or Syndrome 2 3 0.700 moderate 1.000 2 3 2014 2015
CUI: C1857781
Disease: Diaphragmatic Hernia 3
Diaphragmatic Hernia 3
disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 2 2 0.600 limited 1.000 1 2 2005 2005
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: 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: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 1 0.320 limited 1.000 3 2005 2015
CONOTRUNCAL HEART MALFORMATIONS (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 22 0.300 None 1.000 1 2 2011 2011
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
disease Disease or Syndrome 11 0.300 None 1.000 1 2014 2014
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: 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: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.110 None 1.000 4 3 2015 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: 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: 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
Abnormality of cardiovascular system morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.110 None 1.000 1 2015 2015
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 53 6 0.110 None 1.000 1 2007 2007
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.110 None 1.000 1 2011 2011
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.110 None 1.000 1 2009 2009
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 5 2 2011 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 3 3 2017 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 4 2018 2018
Vascular Endothelial Growth Factor Measurement
phenotype Laboratory Procedure 12 46 0.100 None 1.000 2 7 2011 2016
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval
phenotype Finding 57 138 0.100 None 1.000 1 1 2018 2018
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE
phenotype Finding 80 134 0.100 None 1.000 1 1 2019 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018