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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.120 None 1.000 2 2000 2002
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.020 None 0.500 2 2 2005 2011
CUI: C0022548
Disease: Keloid
Keloid 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.010 None 1.000 1 2003 2003
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2000 2000
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.010 None 1.000 1 2013 2013
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 2015 2015
CUI: C4024796
Disease: Punctate corneal dystrophy
Punctate corneal dystrophy 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.010 None 1.000 1 2019 2019
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.010 None 1.000 1 1994 1994
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Juvenile Epithelial of Meesmann 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 9 18 0.100 None 0
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.200 None 0.992 123 8 1996 2019
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: 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: 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: C0018179
Disease: Granular Dystrophy, Corneal
Granular Dystrophy, Corneal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 6 0.200 None 0.964 28 5 1994 2018
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: 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: 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: 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: 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: 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: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		disease Disease or Syndrome 4 8 0.050 None 1.000 5 6 1995 2016