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.
Adult-Onset Vitelliform Macular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 7 0.500 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.420 1.000 3 3 2010 2017
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 36 91 0.410 1.000 1 2015 2015
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5
disease Disease or Syndrome 2 3 0.400 2 3 2010 2015
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56
disease Disease or Syndrome 1 5 0.400 1 5 2010 2010
Juvenile-Onset Vitelliform Macular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 78 0.300 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 177 181 0.100 2 4 2010 2017
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 37 15 0.100 2 1 2010 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 910 451 0.100 1 1 2017 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 911 956 0.100 1 1 2017 2017
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
phenotype Pathologic Function 87 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
Blind spot located at fixation point
phenotype Finding 25 0.100 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 282 4 0.100 0
CUI: C1839764
Disease: Broad flat nasal bridge
Broad flat nasal bridge
phenotype Finding 329 0.100 0
Retinal pigment epithelial abnormality
phenotype Finding 166 2 0.100 0
CUI: C1301510
Disease: Moderate visual impairment
Moderate visual impairment
phenotype Finding 2 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract
disease Disease or Syndrome 22 3 0.100 0
CUI: C4020887
Disease: Photodysphoria
Photodysphoria
phenotype Sign or Symptom 180 0.100 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 332 4 0.100 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 166 0.100 0
CUI: C4229565
Disease: Loss in color vision
Loss in color vision
phenotype Finding 41 0.100 0
CUI: C0008525
Disease: Choroideremia
Choroideremia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 25 13 0.100 0
CUI: C4020885
Disease: Difficulties with night vision
Difficulties with night vision
phenotype Finding 125 0.100 0