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: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.100 None 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.400 definitive 0.844 32 5 2001 2019
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.500 None 0.850 20 5 2002 2019
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 63 32 0.400 None 0.941 17 1 2002 2017
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.100 None 1.000 14 2 2002 2018
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 89 17 0.200 None 1.000 13 3 2002 2019
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.100 None 1.000 12 1 2003 2017
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 2 2002 2014
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 33 13 0.080 None 1.000 8 1 2002 2018
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		disease Nervous System Diseases Disease or Syndrome 46 2 0.070 None 1.000 7 1 2007 2019
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 74 46 0.050 None 1.000 5 1 2005 2018
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		disease Disease or Syndrome 1 10 0.600 strong 1.000 5 10 2001 2018
CUI: C1858674
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 4 0.500 None 1.000 5 4 2001 2018
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.040 None 1.000 4 1 2007 2018
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.130 None 1.000 3 1 2010 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.130 None 1.000 3 2 2016 2019
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.130 None 1.000 3 1 2005 2010
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 100 3 0.510 None 1.000 2 1 2005 2014
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.310 None 1.000 2 2012 2014
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2019 2019
CUI: C0019147
Disease: Hepatic Coma
Hepatic Coma 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 0.300 None 1.000 1 2005 2005