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: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2016 2016
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
Corneal dystrophy, Lattice type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 12 14 0.800 strong 1.000 23 8 1999 2016
CUI: C1641852
Disease: Gelatinous droplike corneal dystrophy
Gelatinous droplike corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.050 None 1.000 5 1 2000 2007
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.020 None 1.000 2 2018 2019
CUI: C0338437
Disease: Neurocysticercosis
Neurocysticercosis 		disease Infections; Nervous System Diseases Disease or Syndrome 34 9 0.020 None 1.000 2 2005 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.010 None 1.000 1 2007 2007
CUI: C0007867
Disease: Cervix Diseases
Cervix Diseases 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 43 3 0.010 None 1.000 1 2014 2014
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.110 None 1.000 1 2002 2002
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.300 None 1.000 1 2011 2011
CUI: C0014599
Disease: Epithelial hyperplasia
Epithelial hyperplasia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 63 0.010 None 1.000 1 2012 2012
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.010 None < 0.001 1 2017 2017
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2018 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.010 None 1.000 1 2016 2016
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2018 2018
CUI: C0029928
Disease: Ovarian Diseases
Ovarian Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 17 5 0.010 None 1.000 1 2011 2011
CUI: C0030499
Disease: Parasitic Diseases
Parasitic Diseases 		group Infections Disease or Syndrome 164 2 0.010 None 1.000 1 2019 2019
CUI: C0039254
Disease: Teniasis
Teniasis 		disease Infections Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 19 0.010 None 1.000 1 2000 2000
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 31 7 0.010 None 1.000 1 2017 2017
CUI: C0275594
Disease: Infection due to Brucella suis
Infection due to Brucella suis 		disease Infections Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C0747256
Disease: Parasitic infection
Parasitic infection 		group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 39 0.010 None 1.000 1 2019 2019
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.010 None 1.000 1 2018 2018
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.010 None 1.000 1 2013 2013
CUI: C1851841
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 129 5 0.010 None 1.000 1 2011 2011
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 3 		disease Disease or Syndrome 209 20 0.010 None 1.000 1 2014 2014