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: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		disease Eye Diseases Disease or Syndrome 1 1 0.930 None 1.000 3 1 2000 2017
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 66 22 0.700 strong 1.000 30 2000 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 402 146 0.550 strong 1.000 4 2005 2010
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 63 23 0.430 moderate 1.000 3 2010 2015
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 247 48 0.330 None 1.000 3 2000 2015
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 194 16 0.200 None 1.000 13 2000 2019
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 163 81 0.130 None 1.000 3 2004 2019
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 68 33 0.130 None 1.000 3 2010 2015
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 385 111 0.110 None 1.000 1 2004 2004
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 80 27 0.100 None 1.000 33 2 2000 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 599 54 0.070 None 1.000 7 2000 2018
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		disease Eye Diseases Disease or Syndrome 136 16 0.050 None 1.000 5 2009 2017
CUI: C0042798
Disease: Low Vision
Low Vision 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 127 10 0.030 None 1.000 3 2004 2009
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		group Eye Diseases Disease or Syndrome 48 18 0.020 None 1.000 2 2 2004 2006
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 152 6 0.020 None 1.000 2 2000 2014
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 141 11 0.020 None 1.000 2 2009 2011
CUI: C2931387
Disease: Leber congenital amaurosis, type 4
Leber congenital amaurosis, type 4 		disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 161 18 0.010 None 1.000 1 2014 2014
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2015 2015
CUI: C1879328
Disease: Blindness both eyes NOS (disorder)
Blindness both eyes NOS (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2003 2003
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2469 234 0.010 None 1.000 1 2015 2015
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		disease Eye Diseases Disease or Syndrome 17 3 0.010 None 1.000 1 2005 2005
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 38 1 0.010 None 1.000 1 2005 2005
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.010 None 1.000 1 2001 2001
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 57 2 0.010 None 1.000 1 2005 2005