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: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 5 0.620 1.000 14 5 1998 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.470 1.000 9 4 1998 2017
Progressive cone dystrophy (without rod involvement)
disease Disease or Syndrome 4 0.300 0
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis
disease Eye Diseases Disease or Syndrome 9 2 0.300 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 52 12 0.160 1.000 6 2 1999 2014
CUI: C0730290
Disease: Cone dystrophy
Cone dystrophy
disease Disease or Syndrome 47 13 0.150 1.000 5 1999 2011
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease Disease or Syndrome 36 21 0.110 1.000 3 1 1998 2017
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 187 1 0.110 1.000 1 2003 2003
Decreased visual acuity, progressive
phenotype Finding 54 5 0.100 0
CUI: C4229565
Disease: Loss in color vision
Loss in color vision
phenotype Finding 41 0.100 0
Retinal pigment epithelial abnormality
phenotype Finding 166 2 0.100 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 51 0.100 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
phenotype Finding 140 0.100 0
CUI: C3552853
Disease: Color vision defect, severe
Color vision defect, severe
phenotype Finding 41 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: C0009398
Disease: Color vision defect
Color vision defect
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 48 2 0.100 0
CUI: C0028077
Disease: Night Blindness
Night Blindness
disease Eye Diseases Disease or Syndrome 131 18 0.100 0
CUI: C0042798
Disease: Low Vision
Low Vision
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 260 12 0.100 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision
phenotype Finding 41 0.100 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Finding 107 0.100 0
CUI: C4020887
Disease: Photodysphoria
Photodysphoria
phenotype Sign or Symptom 180 0.100 0
CUI: C4020885
Disease: Difficulties with night vision
Difficulties with night vision
phenotype Finding 125 0.100 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 166 0.100 0
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
RETINAL CONE DYSTROPHY 1
disease Eye Diseases Disease or Syndrome 5 3 0.060 1.000 6 2 1998 2018
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 177 181 0.020 1.000 2 2005 2010