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: C0003076
Disease: Aniridia
Aniridia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.430 None 1.000 3 4 1990 2017
CUI: C0344543
Disease: Aniridia type 2
Aniridia type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 0.310 limited 1.000 3 1990 2017
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0.300 None 1.000 1 2016 2016
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.300 None 1.000 1 2016 2016
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 13 11 0.110 None 1.000 1 1 1990 1990
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		disease Disease or Syndrome 7 32 0.100 None 1.000 5 2 2001 2018
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 4 87 0.100 None 1.000 5 8 2001 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2017 2017
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 1.000 1 1 2018 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.100 None 1.000 1 1 2014 2014
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		disease Disease or Syndrome 2 4 0.100 None 0 1
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 3 4 0.100 None 0 2
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.100 None 0 1
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		disease Eye Diseases Disease or Syndrome 2 2 0.100 None 0 1
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 30 14 0.100 None 0 1
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0042798
Disease: Low Vision
Low Vision 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.100 None 0 1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0 1
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0 1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease Nervous System Diseases Disease or Syndrome 46 81 0.040 None 0.500 4 2009 2014
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.030 None 1.000 3 2009 2012
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.020 None 1.000 2 1990 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.020 None 1.000 2 1990 2015
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2009 2009
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2015 2015