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: C0339537
Disease: Cone monochromatism
Cone monochromatism
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 4 0.720 1.000 9 2 1989 2016
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 9 4 0.600 3 4 1993 2002
COLORBLINDNESS, PARTIAL, DEUTAN SERIES
disease Disease or Syndrome 34 6 0.510 1.000 3 3 1990 2002
CUI: C3887937
Disease: CONE DYSTROPHY 5, X-LINKED
CONE DYSTROPHY 5, X-LINKED
disease Disease or Syndrome 2 2 0.400 2 2 1996 2010
CUI: C2931753
Disease: Achromatopsia incomplete, X-linked
Achromatopsia incomplete, X-linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 0.300 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.300 0
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 19 0.100 0
CUI: C4020734
Disease: Nystagmus, continuous pendular
Nystagmus, continuous pendular
disease Disease or Syndrome 18 0.100 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Finding 107 0.100 0
CUI: C3552853
Disease: Color vision defect, severe
Color vision defect, severe
phenotype Finding 41 0.100 0
Retinal pigment epithelial abnormality
phenotype Finding 166 2 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: C0234629
Disease: Abnormal color vision
Abnormal color vision
phenotype Finding 41 0.100 0
CUI: C4020885
Disease: Difficulties with night vision
Difficulties with night vision
phenotype Finding 125 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: C4229565
Disease: Loss in color vision
Loss in color vision
phenotype Finding 41 0.100 0
CUI: C4020887
Disease: Photodysphoria
Photodysphoria
phenotype Sign or Symptom 180 0.100 0
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 268 48 0.100 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 166 0.100 0
CUI: C0028077
Disease: Night Blindness
Night Blindness
disease Eye Diseases Disease or Syndrome 131 18 0.100 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 499 33 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: C0085636
Disease: Photophobia
Photophobia
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 187 1 0.100 0
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 12 0.020 1.000 2 1991 1992
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.020 1.000 2 2007 2014