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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		disease Nervous System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 152 7 0.100 None 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		disease Disease or Syndrome 1 8 0.600 strong 1.000 1 8 2018 2018
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.400 strong 1.000 1 2018 2018
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.300 strong 1.000 1 2018 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.300 strong 1.000 1 2018 2018
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.300 strong 1.000 1 2018 2018
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 31 3 0.300 strong 1.000 1 2018 2018
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 0.300 strong 1.000 1 2018 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.110 None 1.000 1 2018 2018
CUI: C0201534
Disease: Antiphospholipid antibodies measurement
Antiphospholipid antibodies measurement 		phenotype Laboratory Procedure 6 8 0.100 None 1.000 1 1 2016 2016