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.
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 20 0.720 1.000 24 20 1990 2017
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 0.500 strong 1.000 17 1971 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.400 0.972 36 2008 2018
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 32 382 0.380 1.000 8 1 2009 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.310 strong 1.000 1 2012 2012
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 117 11 0.300 1 2008 2008
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 1 2008 2008
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 60 0.300 1 2008 2008
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 62 1 0.300 1 2008 2008
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.200 1.000 11 2008 2016
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 125 4 0.110 1.000 2 1 2015 2016
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 128 3 0.110 1.000 1 2013 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.110 1.000 1 2010 2010
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 63 22 0.110 1.000 1 2015 2015
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads
phenotype Finding 8 1 0.100 1 1 2015 2015
Delayed speech and language development
phenotype Finding 219 39 0.100 1 1 2015 2015
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 172 10 0.100 1 1 2015 2015
CUI: C0239842
Disease: Tremor of hands
Tremor of hands
phenotype Sign or Symptom 8 2 0.100 1 1 2015 2015
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 403 20 0.100 1 1 2015 2015
CUI: C4024965
Disease: Frontal cortical atrophy
Frontal cortical atrophy
phenotype Anatomical Abnormality 2 1 0.100 1 1 2015 2015
CUI: C4024936
Disease: Temporal cortical atrophy
Temporal cortical atrophy
disease Disease or Syndrome 9 1 0.100 1 1 2015 2015
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 122 2 0.100 1 1 2015 2015
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 1 1 2015 2015
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure
phenotype Finding 26 1 0.100 1 1 2015 2015
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 155 0.100 0