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: C1833541
Disease: Caroli disease isolated
Caroli disease isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 1 0.300 None 1.000 2 2014 2015
CUI: C0431716
Disease: Nephronophthisis - medullary cystic disease
Nephronophthisis - medullary cystic disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 2 0.010 None 1.000 1 2008 2008
CUI: C4544985
Disease: Fibropolycystic disease of liver
Fibropolycystic disease of liver 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C2673892
Disease: Ductal plate malformation
Ductal plate malformation 		disease Congenital Abnormality 3 0.020 None 1.000 2 2005 2015
CUI: C0021888
Disease: Physiologic Intraocular Pressure
Physiologic Intraocular Pressure 		phenotype Organ or Tissue Function 3 13 0.100 None 1.000 1 1 2014 2014
CUI: C0442872
Disease: Multiple cysts
Multiple cysts 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Acquired Abnormality 3 0.010 None 1.000 1 2012 2012
CUI: C1849765
Disease: Absence of renal corticomedullary differentiation
Absence of renal corticomedullary differentiation 		phenotype Finding 3 0.100 None 0
CUI: C4316799
Disease: Multiple biliary hamartomas
Multiple biliary hamartomas 		disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2015 2015
CUI: C1849766
Disease: Periportal fibrosis
Periportal fibrosis 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 4 1 0.100 None 0 1
CUI: C0009439
Disease: Choledochal Cyst, Type I
Choledochal Cyst, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257796
Disease: Choledochal Cyst, Type II
Choledochal Cyst, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257797
Disease: Choledochal Cyst, Type III
Choledochal Cyst, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257798
Disease: Choledochal Cyst, Type IV
Choledochal Cyst, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1257799
Disease: Choledochal Cyst, Type V
Choledochal Cyst, Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C4255088
Disease: Isolated polycystic liver disease
Isolated polycystic liver disease 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 7 1 0.020 None 1.000 2 2017 2017
CUI: C0162510
Disease: Caroli Disease
Caroli Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome; Congenital Abnormality 8 1 0.340 None 1.000 4 2004 2017
CUI: C0347390
Disease: Skin Papilloma
Skin Papilloma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 8 0.010 None 1.000 1 1985 1985
CUI: C0022681
Disease: Medullary sponge kidney
Medullary sponge kidney 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 9 3 0.010 None 1.000 1 2019 2019
CUI: C0266619
Disease: Potter's facies
Potter's facies 		disease Congenital Abnormality 9 0.100 None 0
CUI: C4023577
Disease: Abnormality of the intrahepatic bile duct
Abnormality of the intrahepatic bile duct 		disease Anatomical Abnormality 10 2 0.100 None 0 2
CUI: C0549613
Disease: Biliary tract abnormality
Biliary tract abnormality 		phenotype Digestive System Diseases Finding 14 0.100 None 0
CUI: C4021986
Disease: Hypoplasia of the ear cartilage
Hypoplasia of the ear cartilage 		phenotype Finding 14 0.100 None 0
CUI: C3805083
Disease: Portal fibrosis
Portal fibrosis 		phenotype Digestive System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 19 0.010 None 1.000 1 2019 2019
CUI: C0267834
Disease: Liver cyst
Liver cyst 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 26 5 0.110 None 1.000 1 2019 2019