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: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		disease Nervous System Diseases Disease or Syndrome 46 2 0.090 None 1.000 9 2012 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.180 None 1.000 8 13 2013 2019
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 13 0.380 None 1.000 8 1 2002 2014
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.460 None 1.000 7 3 2013 2019
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		disease Nervous System Diseases Disease or Syndrome 184 35 0.070 None 1.000 7 1 2004 2018
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 53 122 0.070 None 1.000 7 2013 2019
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.450 None 0.833 6 5 2002 2015
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		disease Nervous System Diseases Disease or Syndrome 81 10 0.360 None 1.000 6 2013 2019
CUI: C0159020
Disease: Convulsions in the newborn
Convulsions in the newborn 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 4 0.040 None 1.000 4 2010 2018
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 36 9 0.140 None 1.000 4 2 2010 2019
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 93 39 0.040 None 1.000 4 3 2013 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.030 None 1.000 3 2014 2018
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 3 2006 2018
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.030 None 0.667 3 2 2001 2010
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 3 2006 2018
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.120 None 1.000 2 2 2004 2019
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.020 None 1.000 2 1 2005 2007
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 354 33 0.020 None 1.000 2 2006 2014
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.020 None 1.000 2 2015 2018
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.020 None 1.000 2 2013 2018
CUI: C1306587
Disease: Acute encephalopathy
Acute encephalopathy 		disease Nervous System Diseases Disease or Syndrome 31 3 0.020 None 1.000 2 2012 2015
CUI: C4518639
Disease: Epilepsy of infancy with migrating focal seizures
Epilepsy of infancy with migrating focal seizures 		disease Nervous System Diseases Disease or Syndrome 7 2 0.020 None 1.000 2 2015 2019
CUI: C4707658
Disease: Acute encephalopathy with biphasic seizures and late reduced diffusion
Acute encephalopathy with biphasic seizures and late reduced diffusion 		disease Nervous System Diseases Disease or Syndrome 8 1 0.020 None 1.000 2 2015 2015
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2014 2014
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.010 None 1.000 1 2019 2019