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: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		disease Nervous System Diseases Disease or Syndrome 4 392 0.100 None 1.000 45 390 2001 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 40 2 1995 2016
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 53 122 0.100 None 1.000 37 59 2001 2017
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		disease Disease or Syndrome 11 76 0.100 None 1.000 37 50 1991 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 19 2 1997 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 19 1 1997 2014
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 25 0.100 None 1.000 9 25 1979 2014
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 28 0.100 None 1.000 9 21 1979 2014
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 58 0.100 None 1.000 5 58 2004 2012
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		disease Cardiovascular Diseases Disease or Syndrome 7 14 0.100 None 1.000 3 14 2012 2016
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 11 0.100 None 1.000 2 11 2006 2007
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		phenotype Finding 104 203 0.100 None 1.000 2 2 2019 2019
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.100 None 1.000 2 4 2014 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.100 None 1.000 2 16 2014 2018
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.100 None 1.000 1 4 2018 2018
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 5 2018 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 9 2017 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.100 None 1.000 1 12 2014 2014
CUI: C4749367
Disease: Mesial temporal lobe epilepsy with hippocampal sclerosis
Mesial temporal lobe epilepsy with hippocampal sclerosis 		disease Nervous System Diseases Disease or Syndrome 14 7 0.100 None 1.000 1 2 2013 2013
CUI: C1843392
Disease: Death in childhood
Death in childhood 		phenotype Finding 25 2 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C1867971
Disease: Acute episodes of neuropathic symptoms
Acute episodes of neuropathic symptoms 		phenotype Finding 4 3 0.100 None 0 1