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: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.100 None 0.952 21 2013 2020
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 12 0.070 None 1.000 7 2015 2020
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.060 None 1.000 6 2013 2018
CUI: C2938983
Disease: Focal cortical dysplasia
Focal cortical dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 44 0.050 None 1.000 5 2015 2020
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.040 None 1.000 4 2014 2019
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 5 0.030 None 1.000 3 2014 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2015 2019
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		disease Nervous System Diseases Disease or Syndrome 17 8 0.310 None 1.000 3 2013 2014
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 39 4 0.130 None 1.000 3 2015 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.030 None 1.000 3 2017 2020
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2014 2017
CUI: C1536075
Disease: Sudden unexplained death in epilepsy
Sudden unexplained death in epilepsy 		disease Disease or Syndrome 12 0.020 None 1.000 2 2018 2019
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.020 None 1.000 2 2014 2016
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 100 54 0.020 None 1.000 2 2015 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.020 None 1.000 2 2014 2016
CUI: C1838062
Disease: Autosomal Dominant Lateral Temporal Lobe Epilepsy
Autosomal Dominant Lateral Temporal Lobe Epilepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 8 4 0.300 None 1.000 2 2013 2013
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.020 None 1.000 2 2014 2015
CUI: C1842564
Disease: Temporal epilepsy, familial
Temporal epilepsy, familial 		disease Nervous System Diseases Disease or Syndrome 2 0.020 None 1.000 2 2014 2015
CUI: C4478700
Disease: Focal cortical dysplasia type IIa
Focal cortical dysplasia type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 354 33 0.010 None 1.000 1 2015 2015
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		disease Disease or Syndrome 5 4 0.010 None 1.000 1 2014 2014
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.010 None 1.000 1 2015 2015
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2018 2018
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 80 6 0.010 None 1.000 1 2018 2018
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2018 2018