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.
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 12 13 0.900 None 1.000 17 12 2001 2016
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.710 None 1.000 9 4 2001 2016
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 117 45 0.370 None 1.000 8 1 2004 2015
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.160 None 1.000 6 1 2001 2015
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.150 None 1.000 5 2004 2015
CUI: C4551508
Disease: Dominant hereditary optic atrophy
Dominant hereditary optic atrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 16 14 0.040 None 1.000 4 2008 2013
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		group Eye Diseases; Nervous System Diseases Disease or Syndrome 112 2 0.040 None 1.000 4 2010 2017
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		disease Disease or Syndrome 14 22 0.040 None 1.000 4 2011 2013
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.030 None 1.000 3 2008 2017
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 1 0.130 None 1.000 3 2005 2015
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 54 8 0.020 None 1.000 2 2013 2017
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.020 None 1.000 2 2011 2015
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.120 None 1.000 2 2005 2015
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		disease Eye Diseases Disease or Syndrome 87 55 0.010 None 1.000 1 2007 2007
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		disease Eye Diseases Disease or Syndrome 94 74 0.010 None 1.000 1 2008 2008
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2005 2005
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2005 2005
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2015 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2005 2005
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 30 22 0.010 None 1.000 1 2013 2013
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 0.010 None 1.000 1 2013 2013
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2002 2002
CUI: C4040739
Disease: 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 		disease Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 9 0.110 None 1.000 1 2015 2015
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		disease Eye Diseases Disease or Syndrome 94 56 0.010 None 1.000 1 2007 2007