CFC1, cripto, FRL-1, cryptic family 1, 55997

N. diseases: 73; N. variants: 4
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: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		disease Disease or Syndrome 39 5 0.900 None 1.000 3 3 2000 2015
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 0.620 None 1.000 3 1999 2008
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 0.610 None 1.000 2 1999 2002
CUI: C4274029
Disease: Biliary atresia with splenic malformation syndrome
Biliary atresia with splenic malformation syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2008 2008
CUI: C1167664
Disease: Situs ambiguous
Situs ambiguous 		disease Congenital Abnormality 9 0.300 None 1.000 1 2000 2000
CUI: C1956410
Disease: Double Outlet Right Ventricle, Noncommitted VSD
Double Outlet Right Ventricle, Noncommitted VSD 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 3 0.300 None 1.000 1 2002 2002
CUI: C1956411
Disease: Double Outlet Right Ventricle, Subaortic VSD
Double Outlet Right Ventricle, Subaortic VSD 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 3 0.300 None 1.000 1 2002 2002
CUI: C1956412
Disease: Double Outlet Right Ventricle, Subpulmonary VSD
Double Outlet Right Ventricle, Subpulmonary VSD 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 3 0.300 None 1.000 1 2002 2002
CUI: C1956413
Disease: Taussig-Bing Anomaly
Taussig-Bing Anomaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 4 0.300 None 1.000 1 2002 2002
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 0.300 None 1.000 1 2000 2000
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 0.230 None 1.000 3 2002 2015
CUI: C0265357
Disease: Polysplenia Syndrome
Polysplenia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 7 0.210 None 1.000 3 1999 2008
CUI: C3178806
Disease: Right Atrial Isomerism
Right Atrial Isomerism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 14 0.200 None 1.000 2 1999 1999
CUI: C1876171
Disease: Polyasplenia
Polyasplenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.200 None 1.000 2 1999 1999
CUI: C1876172
Disease: VAH, AUTOSOMAL RECESSIVE
VAH, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 3 0.200 None 1.000 2 1999 1999
CUI: C1876173
Disease: Heterotaxy, Visceroatrial, Autosomal Recessive
Heterotaxy, Visceroatrial, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.200 None 1.000 2 1999 1999
CUI: C0344692
Disease: Isomerism of atrial appendages
Isomerism of atrial appendages 		disease Congenital Abnormality 3 0.200 None 1.000 2 1999 1999
CUI: C2910124
Disease: Isomerism of atrial appendages with asplenia or polysplenia
Isomerism of atrial appendages with asplenia or polysplenia 		disease Congenital Abnormality 3 0.200 None 1.000 2 1999 1999
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 13 5 0.200 None 1.000 2 1999 1999
CUI: C3536741
Disease: Discordant ventriculoarterial connection
Discordant ventriculoarterial connection 		disease Congenital Abnormality 10 1 0.200 None 1.000 1 1999 1999
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 6 12 0.200 None 1.000 1 1999 1999
CUI: C3257801
Disease: Dextrotransposition of aorta
Dextrotransposition of aorta 		disease Cardiovascular Diseases Congenital Abnormality 4 0.200 None 1.000 1 1999 1999
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		disease Disease or Syndrome 30 2 0.200 None 0
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 30 17 0.200 None 0
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		disease Disease or Syndrome 30 3 0.200 None 0