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: C3807541
Disease: MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY 		disease Disease or Syndrome 2 0.300 limited 0
CUI: C0278686
Disease: Ovarian epithelial cancer stage II
Ovarian epithelial cancer stage II 		disease Neoplastic Process 4 0.010 None 1.000 1 2014 2014
CUI: C4553237
Disease: Stage II Ovarian Cancer AJCC v8
Stage II Ovarian Cancer AJCC v8 		disease Neoplastic Process 4 0.010 None 1.000 1 2014 2014
CUI: C4023479
Disease: EEG with focal sharp slow waves
EEG with focal sharp slow waves 		phenotype Finding 6 0.100 None 0
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 16 3 0.300 limited 1.000 1 2013 2013
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 0.100 None 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		phenotype Finding 21 2 0.100 None 0
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		phenotype Injury or Poisoning 22 0.100 None 0
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 2 0.500 limited 1.000 2 2006 2013
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 3 0.100 None 0
CUI: C0031212
Disease: Personality Disorders
Personality Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 49 8 0.100 None 0
CUI: C0341038
Disease: Jaw Keratocyst
Jaw Keratocyst 		disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 51 4 0.010 None 1.000 1 2019 2019
CUI: C1708604
Disease: Keratocystic Odontogenic Tumor
Keratocystic Odontogenic Tumor 		disease Neoplasms Neoplastic Process 59 2 0.010 None 1.000 1 2019 2019
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		phenotype Diagnostic Procedure 67 108 0.100 None 1.000 1 1 2012 2012
CUI: C0279672
Disease: Cervical Adenocarcinoma
Cervical Adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 82 0.010 None 1.000 1 2018 2018
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 143 6 0.100 None 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.310 limited 1.000 2 2006 2013
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral 		disease Infections Disease or Syndrome 197 22 0.010 None 1.000 1 2020 2020
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.100 None 0
CUI: C0003123
Disease: Anorexia
Anorexia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 242 10 0.010 None 1.000 1 2017 2017
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 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: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0