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: C0271086
Disease: Toxic maculopathy
Toxic maculopathy 		disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
CUI: C4022725
Disease: Retinal astrocytic hamartoma
Retinal astrocytic hamartoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2007 2007
CUI: C4293702
Disease: Foveal atrophy
Foveal atrophy 		phenotype Anatomical Abnormality 2 0.010 None 1.000 1 2013 2013
CUI: C1838644
Disease: Stargardt disease 3
Stargardt disease 3 		disease Eye Diseases Disease or Syndrome 4 0.220 None 1.000 2 1998 2018
CUI: C2733564
Disease: Full thickness hole of macula lutea
Full thickness hole of macula lutea 		disease Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
MACULAR DEGENERATION, EARLY-ONSET 		disease Disease or Syndrome 5 1 0.010 None 1.000 1 2001 2001
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		disease Acquired Abnormality 7 2 0.020 None 1.000 2 2012 2016
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2012 2012
CUI: C0339546
Disease: Retinal Pigment Epithelial Detachment
Retinal Pigment Epithelial Detachment 		disease Eye Diseases Disease or Syndrome 8 3 0.010 None 1.000 1 2014 2014
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure 		disease Respiratory Tract Diseases Disease or Syndrome 8 0.010 None 1.000 1 2014 2014
CUI: C0730294
Disease: North Carolina macular dystrophy
North Carolina macular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 1998 1998
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 11 5 0.010 None 1.000 1 1 2012 2012
CUI: C0040560
Disease: Toxoplasmosis, Congenital
Toxoplasmosis, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 12 6 0.010 None 1.000 1 2008 2008
CUI: C0877104
Disease: Retinal toxicity
Retinal toxicity 		disease Anatomical Abnormality 12 0.010 None 1.000 1 2001 2001
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		disease Eye Diseases Disease or Syndrome 13 3 0.020 None 1.000 2 2004 2014
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 17 1 0.010 None 1.000 1 2018 2018
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease Disease or Syndrome 18 18 1.000 None 0.978 77 15 1997 2020
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		disease Congenital Abnormality 18 11 0.310 None < 0.001 1 1 2018 2018
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 23 2 0.010 None 1.000 1 2018 2018
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 26 0.010 None 1.000 1 2007 2007
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 27 0.010 None 1.000 1 2006 2006
CUI: C1861537
Disease: OROFACIAL CLEFT 1
OROFACIAL CLEFT 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 27 11 0.010 None 1.000 1 2016 2016
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		disease Digestive System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2017 2017
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 29 8 0.020 None 1.000 2 1999 2001
CUI: C0275544
Disease: Congenital infectious disease
Congenital infectious disease 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome 29 7 0.010 None 1.000 1 2008 2008