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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
disease Disease or Syndrome 1 3 0.600 1 3 2016 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.560 1.000 8 2002 2018
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 220 7 0.410 1.000 1 2010 2010
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
phenotype Finding 1 2 0.400 3 2 2015 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 1 2015 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.330 0.667 3 2011 2012
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 128 3 0.310 1.000 2 2010 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.310 strong 1.000 2 2015 2016
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 180 11 0.310 1.000 2 2006 2009
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.310 1.000 2 2007 2010
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 49 9 0.310 1.000 1 2 2015 2015
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 335 91 0.310 1.000 1 2012 2012
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.310 1.000 1 2016 2016
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 2 2002 2008
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 60 0.300 2 2002 2008
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 62 1 0.300 2 2002 2008
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 100 0.300 1 2010 2010
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 0.300 1 2010 2010
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 155 0.300 1 2010 2010
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 172 10 0.300 1 2010 2010
CUI: C0458247
Disease: Allodynia
Allodynia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 83 0.300 1 2010 2010
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2010 2010
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 100 0.300 1 2010 2010
CUI: C4505436
Disease: Generalized Absence Seizures
Generalized Absence Seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2010 2010
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2010 2010