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: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 7 0.010 None 1.000 1 1996 1996
CUI: C0860659
Disease: Aloof
Aloof 		disease Mental or Behavioral Dysfunction 81 0.010 None 1.000 1 1996 1996
CUI: C4699184
Disease: Fuchs
Fuchs 		disease Disease or Syndrome 10 5 0.010 None 1.000 1 1996 1996
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		disease Disease or Syndrome 111 9 0.010 None 1.000 1 1996 1996
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.050 None 1.000 5 1997 2019
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.020 None 1.000 2 1997 2008
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 11 13 0.800 strong 0.960 50 11 1998 2019
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 115 14 0.800 strong 1.000 40 5 1998 2019
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
Reis-Bucklers' corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 6 0.800 strong 0.950 20 5 1998 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.090 None 1.000 9 1 1998 2019
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
Thiel-Behnke corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 4 0.750 strong 1.000 7 4 1998 2015
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 0.070 None 0.857 7 4 1998 2007
CUI: C1837974
Disease: Corneal Dystrophy, Lattice Type IIIA
Corneal Dystrophy, Lattice Type IIIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 6 0.730 strong 0.857 7 6 1998 2011
CUI: C1641846
Disease: Groenouw corneal dystrophy type I (disorder)
Groenouw corneal dystrophy type I (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 3 0.730 strong 1.000 6 3 1998 2011
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 3 0.710 strong 1.000 4 3 1998 2016
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 0.200 None 0.953 43 14 1999 2019
CUI: C0162281
Disease: Corneal deposit
Corneal deposit 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.090 None 1.000 9 3 1999 2018
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 269 83 0.070 None 1.000 7 1 1999 2017
CUI: C4700127
Disease: Thiel-behnke
Thiel-behnke 		disease Disease or Syndrome 2 2 0.030 None 1.000 3 2 1999 2008
CUI: C0010035
Disease: Hereditary corneal dystrophy
Hereditary corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 0.020 None 1.000 2 1999 2005
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 15 0.110 None 1.000 1 1999 1999
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.020 None 1.000 2 2000 2002
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.120 None 1.000 2 2000 2002
CUI: C0038457
Disease: Stromal Dystrophies, Corneal
Stromal Dystrophies, Corneal 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 1 0.020 None 1.000 2 1 2000 2000
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		disease Musculoskeletal Diseases Disease or Syndrome 50 3 0.010 None 1.000 1 2000 2000