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: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 54 1 0.350 None 1.000 8 1998 2017
CUI: C0014511
Disease: Epithelial cyst
Epithelial cyst 		phenotype Neoplasms Anatomical Abnormality 38 0.010 None 1.000 1 2005 2005
CUI: C0019326
Disease: Ventral Hernia
Ventral Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 13 0.010 None 1.000 1 2010 2010
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 30 6 0.010 None 1.000 1 2017 2017
CUI: C0858213
Disease: vascular aneurysm
vascular aneurysm 		disease Anatomical Abnormality 5 0.010 None 1.000 1 2010 2010
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.010 None 1.000 1 2018 2018
CUI: C0012811
Disease: Colon diverticulum anatomic structure
Colon diverticulum anatomic structure 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		disease Anatomical Abnormality 32 6 0.100 None 0 1
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		disease Anatomical Abnormality 12 4 0.100 None 0 1
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 26 1 0.100 None 0 1
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 13 2 1999 2015
CUI: C0887850
Disease: Polycystic Kidney, Type 1 Autosomal Dominant Disease
Polycystic Kidney, Type 1 Autosomal Dominant Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 10 2 0.300 None 1.000 6 1994 2017
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 30 6 0.010 None 1.000 1 2011 2011
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 2007 2007
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 99 12 0.010 None 1.000 1 2004 2004
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 0.010 None 1.000 1 1997 1997
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.010 None 1.000 1 2008 2008
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 95 3 0.010 None < 0.001 1 2020 2020
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.010 None 1.000 1 2019 2019
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 104 8 0.010 None 1.000 1 2011 2011
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 63 4 0.100 None 0 1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2019 2019
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 280 35 0.900 definitive 0.979 429 2 1988 2020
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.900 definitive 0.976 82 23 1990 2019