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: C0206715
Disease: Neoplasms, Neuroepithelial
Neoplasms, Neuroepithelial 		group Neoplasms Neoplastic Process 46 5 0.010 None 1.000 1 2001 2001
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 48 16 0.010 None 1.000 1 1999 1999
CUI: C0023066
Disease: Laryngospasm
Laryngospasm 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 48 0.100 None 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		phenotype Finding 49 1 0.100 None 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 51 29 0.100 None 0
CUI: C0086189
Disease: Drug Withdrawal Symptoms
Drug Withdrawal Symptoms 		phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 58 0.300 None 1.000 1 2003 2003
CUI: C0241210
Disease: Speech Delay
Speech Delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.300 None 1.000 1 2013 2013
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		disease Disease or Syndrome 58 20 0.100 None 0 1
CUI: C4285693
Disease: HIV-associated neurocognitive disorder
HIV-associated neurocognitive disorder 		disease Infections; Immune System Diseases Disease or Syndrome 61 5 0.010 None 1.000 1 2016 2016
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		phenotype Finding 62 0.100 None 0
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 63 4 0.100 None 0
CUI: C0003635
Disease: Apraxias
Apraxias 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 71 9 0.010 None < 0.001 1 2015 2015
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.040 None 0.750 4 2013 2017
CUI: C0265101
Disease: Carotid artery occlusion
Carotid artery occlusion 		phenotype Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 74 1 0.010 None 1.000 1 2017 2017
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease Nervous System Diseases Disease or Syndrome 75 9 0.100 None 0
CUI: C0024713
Disease: Manic Disorder
Manic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 76 0.300 None 1.000 1 2019 2019
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 None 0
CUI: C0038587
Disease: Substance Withdrawal Syndrome
Substance Withdrawal Syndrome 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 80 5 0.300 None 1.000 1 2003 2003
CUI: C0524662
Disease: Opiate Addiction
Opiate Addiction 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 81 46 0.020 None 1.000 2 2013 2018
CUI: C0752308
Disease: Hypoxia-Ischemia, Brain
Hypoxia-Ischemia, Brain 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 81 0.200 None 1.000 1 2009 2009
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 83 0.300 None 1.000 2 2010 2013
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 2 2010 2013
CUI: C0029227
Disease: Delirium, Dementia, Amnestic, Cognitive Disorders
Delirium, Dementia, Amnestic, Cognitive Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 83 0.200 None 1.000 1 2016 2016
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		disease Disease or Syndrome 84 14 0.010 None 1.000 1 1999 1999
CUI: C0003537
Disease: Aphasia
Aphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 86 3 0.140 None 1.000 4 2013 2018