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: C0031212
Disease: Personality Disorders
Personality Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 49 8 0.100 None 0
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 62 6 0.300 limited 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.200 None 0.932 59 20 2002 2020
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 19 1 1997 2014
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.100 None 0.938 16 1 2006 2017
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 250 7 0.070 None 1.000 7 2006 2018
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.160 None 1.000 6 2007 2017
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 83 0.300 None 1.000 4 2005 2018
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.030 None 1.000 3 2013 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.130 None 1.000 3 2006 2011
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.030 None 1.000 3 2006 2011
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.030 None 1.000 3 1 2007 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.030 None 1.000 3 2006 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 0.667 3 2010 2014
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 108 0.020 None 0.500 2 2013 2014
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		phenotype Finding 104 203 0.100 None 1.000 2 2 2019 2019
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.120 None 1.000 2 1 2009 2018
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		phenotype Disease or Syndrome 42 5 0.020 None 1.000 2 2016 2018
CUI: C0018681
Disease: Headache
Headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 338 75 0.010 None 1.000 1 2011 2011
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 91 6 0.110 None 1.000 1 2013 2013
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 41 6 0.110 None 1.000 1 2011 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2017 2017
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.110 None 1.000 1 1 2017 2017
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2017 2017
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.010 None 1.000 1 2017 2017