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: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.300 strong 1.000 1 2014 2014
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.140 None 1.000 4 2013 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.430 None 1.000 4 2013 2015
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2015 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2015 2015
CUI: C4085238
Disease: MYOCLONIC-ATONIC EPILEPSY
MYOCLONIC-ATONIC EPILEPSY 		disease Disease or Syndrome 6 16 0.010 None 1.000 1 2015 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2015 2015
CUI: C0751349
Disease: Myoclonus, Eyelid
Myoclonus, Eyelid 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2015 2015
CUI: C4727877
Disease: Epilepsy with myoclonic-atonic seizures
Epilepsy with myoclonic-atonic seizures 		disease Disease or Syndrome 4 0.010 None 1.000 1 2015 2015
CUI: C0393720
Disease: Reflex Epilepsy, Photosensitive
Reflex Epilepsy, Photosensitive 		disease Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2015 2015
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.020 None 1.000 2 2015 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 12 1 2007 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 12 3 2007 2017
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		disease Disease or Syndrome 3 43 0.600 strong 1.000 5 43 2013 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.330 None 1.000 4 2014 2017
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		group Mental Disorders Mental or Behavioral Dysfunction 328 49 0.020 None 1.000 2 2016 2017
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 66 26 0.010 None 1.000 1 2017 2017
CUI: C0023530
Disease: Leukopenia
Leukopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.010 None 1.000 1 2017 2017
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.010 None 1.000 1 2017 2017
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 68 11 0.010 None 1.000 1 2017 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.360 None 1.000 7 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 0.150 None 1.000 5 2013 2018
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.040 None 1.000 4 2013 2018
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.030 None 1.000 3 2015 2018
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 0.320 None 1.000 3 2013 2018