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: C4693694
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 		disease Disease or Syndrome 1 4 0.600 strong 1.000 2 4 2014 2017
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		disease Disease or Syndrome 1 5 0.600 strong 1.000 2 5 2017 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.420 strong 1.000 3 2011 2018
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.320 moderate 1.000 2 2008 2014
CUI: C0085417
Disease: Epilepsy, Complex Partial
Epilepsy, Complex Partial 		disease Nervous System Diseases Disease or Syndrome 4 1 0.300 None 1.000 1 2008 2008
CUI: C0751640
Disease: Cryptogenic Partial Complex Epilepsy
Cryptogenic Partial Complex Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2008 2008
CUI: C0751641
Disease: Epilepsy, Symptomatic, Partial Complex
Epilepsy, Symptomatic, Partial Complex 		disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2008 2008
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.150 None 0.800 5 2011 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.110 None 1.000 1 1 2018 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.100 None 0.929 14 1 2008 2020
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.100 None 1.000 1 2 2011 2011
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.100 None 0 1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.100 None 0 1
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 169 17 0.100 None 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0