Source: ALL
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.
LEBER CONGENITAL AMAUROSIS 9 (disorder)
disease Eye Diseases Disease or Syndrome 6 22 0.940 None 1.000 15 22 2003 2018
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease Eye Diseases Disease or Syndrome 83 109 0.800 limited 1.000 17 6 2003 2018
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
phenotype Eye Diseases Pathologic Function 125 2 0.500 None 1.000 1 2012 2012
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.410 None 1.000 1 2012 2012
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 11 0.400 None 1.000 1 2012 2012
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.330 None 1.000 3 2014 2018
Congenital Amaurosis of Retinal Origin
disease Eye Diseases Disease or Syndrome 8 0.300 None 1.000 4 2012 2012
CUI: C0525041
Disease: Neurobehavioral Manifestations
Neurobehavioral Manifestations
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 77 3 0.300 None 1.000 1 2017 2017
CUI: C0043020
Disease: Wallerian Degeneration
Wallerian Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 21 0.300 None 1.000 1 2017 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.300 None 1.000 1 2012 2012
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 42 1 0.200 None 1.000 2 2016 2018
CUI: C0149940
Disease: Sciatic Neuropathy
Sciatic Neuropathy
disease Nervous System Diseases Disease or Syndrome 115 0.200 None 1.000 1 2006 2006
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.130 None 1.000 3 1 2014 2018
Amaurosis congenita of Leber, type 1
disease Eye Diseases Disease or Syndrome 81 60 0.100 None 1.000 10 3 2006 2018
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0 1
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 9 0.100 None 0 1
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility
phenotype Finding 28 13 0.100 None 0 1
Malformations of Cortical Development, Group II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.100 None 0
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.100 None 0
Attenuation of retinal blood vessels
phenotype Finding 41 2 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
Aplasia/Hypoplasia of the cerebellar vermis
phenotype Finding 30 2 0.100 None 0