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: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
disease Disease or Syndrome 30 2 0.700 strong 1.000 4 2 2012 2017
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 0.510 strong 1.000 3 2012 2016
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 138 6 0.410 None 1.000 2 2012 2015
CUI: C1167664
Disease: Situs ambiguous
Situs ambiguous
disease Congenital Abnormality 9 0.300 None 1.000 1 2012 2012
CUI: C0011813
Disease: Dextrocardia
Dextrocardia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 30 6 0.110 None 1.000 1 2 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 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 104 8 0.030 None 1.000 3 2012 2017
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 39 8 0.010 None 1.000 1 2017 2017
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
disease Disease or Syndrome 6 14 0.010 None < 0.001 1 2012 2012
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None < 0.001 1 2012 2012