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: C4310668
Disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
HETEROTAXY, VISCERAL, 8, AUTOSOMAL
disease Disease or Syndrome 1 2 0.700 None 1.000 1 2 2016 2016
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 138 6 0.400 None 1.000 1 1 2016 2016
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 55 9 0.310 None 1.000 2 2016 2020
CUI: C1167664
Disease: Situs ambiguous
Situs ambiguous
disease Congenital Abnormality 9 0.300 None 1.000 1 2016 2016
Congenitally corrected transposition of the great arteries with ventricular septal defect
disease Congenital Abnormality 1 1 0.100 None 1.000 1 1 2016 2016
Unbalanced atrioventricular canal defect
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 1 1 0.100 None 1.000 1 1 2016 2016
CUI: C3164429
Disease: Indeterminate atrial arrangement
Indeterminate atrial arrangement
disease Congenital Abnormality 1 1 0.100 None 1.000 1 1 2016 2016
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
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 0.100 None 1.000 1 1 2016 2016
Congenital atresia of pulmonary artery
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 19 5 0.100 None 1.000 1 2 2016 2016
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.100 None 1.000 1 1 2016 2016
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 61 18 0.100 None 1.000 1 1 2016 2016
CUI: C0035615
Disease: Right aortic arch (disorder)
Right aortic arch (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4 1 0.100 None 1.000 1 1 2016 2016
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 104 8 0.100 None 1.000 1 2 2016 2016
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 52 7 0.100 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0
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 2020 2020