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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 2018 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2012 2012
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.010 None 1.000 1 1 2010 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2018 2018
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.010 None 1.000 1 2014 2014
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 3 4 0.010 None 1.000 1 2020 2020
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 1 2012 2012
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		disease Eye Diseases Disease or Syndrome 94 56 0.020 None 1.000 2 2014 2015
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		disease Eye Diseases Disease or Syndrome 87 55 0.020 None 1.000 2 2014 2015
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		disease Eye Diseases Disease or Syndrome 304 56 0.020 None 0.500 2 2012 2016
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 59 14 0.020 None 1.000 2 2010 2014
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		disease Eye Diseases Disease or Syndrome 103 56 0.030 None 1.000 3 1 2012 2015
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.030 None 1.000 3 2011 2014
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.060 None 0.667 6 2 2011 2016
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 4 2 0.100 None 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		phenotype Finding 13 0.100 None 0
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 25 2 0.100 None 0
CUI: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 11 0.100 None 0
CUI: C4021563
Disease: Retinal nonattachment
Retinal nonattachment 		disease Eye Diseases Congenital Abnormality 7 0.100 None 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		phenotype Eye Diseases Finding 113 5 0.100 None 0
CUI: C0014877
Disease: Esotropia
Esotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 121 39 0.100 None 0
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.100 None 0
CUI: C0020581
Disease: Hyphema
Hyphema 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 2 1 0.100 None 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0