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: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 1 0.640 1.000 5 1 1998 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.370 1.000 7 2003 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.310 1.000 2 1 2015 2016
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.300 1 2017 2017
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 strong 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 0.130 1.000 3 2005 2008
Retinal pigment epithelial abnormality
phenotype Finding 166 2 0.100 0
Macular dystrophy, concentric annular
phenotype Eye Diseases Finding 3 3 0.100 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 166 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: C4020885
Disease: Difficulties with night vision
Difficulties with night vision
phenotype Finding 125 0.100 0
CUI: C4020887
Disease: Photodysphoria
Photodysphoria
phenotype Sign or Symptom 180 0.100 0
CUI: C4229565
Disease: Loss in color vision
Loss in color vision
phenotype Finding 41 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: 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: C0028077
Disease: Night Blindness
Night Blindness
disease Eye Diseases Disease or Syndrome 131 18 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: C0423414
Disease: Retinal flecking
Retinal flecking
phenotype Finding 7 0.100 0
CUI: C0730290
Disease: Cone dystrophy
Cone dystrophy
disease Disease or Syndrome 47 13 0.100 0
CUI: C0730330
Disease: Chloroquine retinopathy
Chloroquine retinopathy
disease Disease or Syndrome 3 2 0.100 0
CUI: C0024440
Disease: Macular Edema, Cystoid
Macular Edema, Cystoid
disease Eye Diseases Disease or Syndrome 15 2 0.010 1.000 1 2017 2017
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
disease Disease or Syndrome 61 15 0.010 1.000 1 2000 2000
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 177 181 0.010 1.000 1 2007 2007