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.
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 11 0.600 8 11 2005 2017
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 6 0.600 1 6 2005 2005
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 221 8 0.500 0.933 15 2005 2016
CUI: C0311249
Disease: Cryptophthalmos
Cryptophthalmos
disease Congenital Abnormality 7 1 0.300 0
CUI: C0266527
Disease: Hypoplasia of eye
Hypoplasia of eye
disease Congenital Abnormality 3 0.300 0
CUI: C0266524
Disease: Dysplasia of eye
Dysplasia of eye
disease Congenital Abnormality 3 0.300 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus
disease Eye Diseases Disease or Syndrome 10 16 0.200 1 2000 2000
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.120 1.000 2 2015 2017
CUI: C0020490
Disease: Hyperopia
Hyperopia
disease Eye Diseases Disease or Syndrome 84 4 0.120 1.000 2 2005 2014
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.110 1.000 1 2008 2008
CUI: C0023980
Disease: Longevity
Longevity
phenotype Temporal Concept 30 40 0.100 1 1 2015 2015
Bone spicule pigmentation of the retina
phenotype Finding 19 0.100 0
CUI: C4280808
Disease: Abnormally small eyeball
Abnormally small eyeball
phenotype Anatomical Abnormality 144 0.100 0
CUI: C4280625
Disease: Decreased size of eyeball
Decreased size of eyeball
phenotype Finding 144 0.100 0
CUI: C4025849
Disease: Abnormality of the fovea
Abnormality of the fovea
phenotype Anatomical Abnormality 6 0.100 0
CUI: C4025840
Disease: Abnormality of the sclera
Abnormality of the sclera
phenotype Finding 2 0.100 0
CUI: C2674403
Disease: Scleral thickening
Scleral thickening
phenotype Finding 2 0.100 0
CUI: C2674407
Disease: Foveoschisis
Foveoschisis
phenotype Finding 1 0.100 0
Abnormal light- and dark-adapted electroretinogram
phenotype Finding 5 0.100 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 250 0.100 0
CUI: C4025836
Disease: Abnormality of the choroid
Abnormality of the choroid
phenotype Anatomical Abnormality 9 0.100 0
CUI: C4020885
Disease: Difficulties with night vision
Difficulties with night vision
phenotype Finding 125 0.100 0
CUI: C4024665
Disease: High-grade hypermetropia
High-grade hypermetropia
phenotype Finding 35 0.100 0
CUI: C1260959
Disease: Drusen
Drusen
disease Disease or Syndrome 45 12 0.100 0