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: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 63 32 0.900 definitive 0.974 269 25 2001 2020
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
disease Nervous System Diseases Disease or Syndrome 57 43 0.100 None 0.966 204 19 2003 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.500 None 0.977 175 14 2001 2020
Early Infantile Epileptic Encephalopathy 6
disease Nervous System Diseases Disease or Syndrome 4 392 0.800 None 1.000 75 390 2000 2018
Generalized Epilepsy with Febrile Seizures Plus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 13 0.600 definitive 0.983 58 6 2000 2017
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.700 None 0.939 49 9 2002 2020
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
disease Nervous System Diseases Disease or Syndrome 53 122 0.420 strong 1.000 40 59 2001 2019
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 58 0.730 None 1.000 39 58 2000 2012
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
disease Disease or Syndrome 11 76 0.100 None 1.000 37 50 1991 2018
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes
disease Nervous System Diseases Disease or Syndrome 46 2 0.100 None 1.000 30 2002 2020
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine
disease Nervous System Diseases Disease or Syndrome 24 17 0.100 None 1.000 24 2 2005 2019
Hemiplegic migraine, familial type 1
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 37 0.100 None 0.955 22 4 2006 2019
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 93 36 0.500 None 1.000 20 4 2003 2020
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 71 9 0.400 None 1.000 19 2002 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 19 1 1997 2014
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3
disease Nervous System Diseases Disease or Syndrome 2 14 0.700 moderate 1.000 17 14 2000 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.200 None 1.000 14 5 2011 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.200 None 1.000 10 2001 2019
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
disease Nervous System Diseases Disease or Syndrome 73 23 0.170 None 1.000 9 4 2008 2019
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease Nervous System Diseases Disease or Syndrome 184 35 0.090 None 1.000 9 1 2004 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.070 None 1.000 7 2008 2017
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.330 None 1.000 6 2005 2017
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 94 24 0.360 None 1.000 6 3 2001 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.060 None 1.000 6 2008 2017
CUI: C1720983
Disease: Channelopathies
Channelopathies
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.060 None 1.000 6 2006 2019