Source: INFERRED ×
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: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		disease Disease or Syndrome 1 0.700 None 1.000 6 13 2014 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 105 0.150 None 1.000 0 19 2014 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1458 0.130 None 1.000 2 2 2015 2017
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1292 0.110 None 1.000 2 2 2017 2017
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 1259 0.110 None 1.000 0 2017 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 161 0.110 None 1.000 0 2020 2020
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 954 0.100 None 1.000 7 1 1995 2017
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 0.100 None 1.000 3 5 2018 2019
CUI: C4022901
Disease: Low CSF 5-methyltetrahydrofolate
Low CSF 5-methyltetrahydrofolate 		phenotype Finding 1 0.100 None 1.000 2 1 2017 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 44 0.100 None 1.000 2 1 2017 2017
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 0.100 None 1.000 1 1 2018 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 0.100 None 1.000 1 1 2017 2017
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 0.100 None 1.000 1 1 2018 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 389 0.100 None 1.000 1 2 2018 2018
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 0.100 None 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 344 0.100 None 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 146 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 345 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 556 0.100 None 0 1
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 324 0.100 None 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 476 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 122 0.100 None 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		phenotype Finding 41 0.100 None 0