Source: BEFREE ×
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: 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 2 0.730 strong 1.000 3 2 1998 2011
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 5 0.730 strong 0.857 3 5 1998 2011
CUI: C0010035
Disease: Hereditary corneal dystrophy
Hereditary corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 0.020 None 1.000 2 1999 2005
CUI: C0271285
Disease: Epithelial basement membrane dystrophy
Epithelial basement membrane dystrophy 		disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 2 0.120 None 0.500 2 2 2004 2016
CUI: C0339271
Disease: Salzmann nodular dystrophy
Salzmann nodular dystrophy 		disease Eye Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2009 2009
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 2 0.710 strong 1.000 1 2 1998 2016
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 17 5 1998 2019
CUI: C4700127
Disease: Thiel-behnke
Thiel-behnke 		disease Disease or Syndrome 2 2 0.030 None 1.000 3 2 1999 2008
CUI: C0038457
Disease: Stromal Dystrophies, Corneal
Stromal Dystrophies, Corneal 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 1 0.020 None 1.000 2 1 2000 2000
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 2 0.110 None 1.000 1 1999 1999
CUI: C1142223
Disease: Granulomatous iritis
Granulomatous iritis 		disease Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2011 2011
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
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: C0271288
Disease: Corneal guttata
Corneal guttata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1 2000 2000
CUI: C0852384
Disease: Visual impairment and blindness (excl colour blindness)
Visual impairment and blindness (excl colour blindness) 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		disease Disease or Syndrome 4 8 0.050 None 1.000 5 6 1995 2016
CUI: C2939149
Disease: Amyloid of cornea
Amyloid of cornea 		disease Disease or Syndrome 4 5 0.040 None 0.750 4 3 2004 2007
CUI: C0024439
Disease: Macular corneal dystrophy
Macular corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 2 0.010 None 1.000 1 2016 2016
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 2 0.010 None 1.000 1 2000 2000
CUI: C1850765
Disease: Visual auras
Visual auras 		disease Nervous System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2018 2018
CUI: C1852551
Disease: Epithelial Recurrent Erosion Dystrophy
Epithelial Recurrent Erosion Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2015 2015
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 6 19 0.200 None 0.953 43 14 1999 2019
CUI: C0235270
Disease: Keratopathy
Keratopathy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2002 2002
CUI: C0018179
Disease: Granular Dystrophy, Corneal
Granular Dystrophy, Corneal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 6 0.200 None 0.964 28 5 1994 2018
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 6 0.010 None 1.000 1 1 2016 2016