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: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 13 60 1.000 None 0.988 84 60 1996 2019
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		disease Disease or Syndrome 1 28 0.700 None 1.000 22 28 1996 2017
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 37 0.800 None 0.966 58 27 1996 2018
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 64 11 1.000 None 0.986 72 11 1997 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.400 None 1.000 47 10 1997 2019
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine 		disease Nervous System Diseases Disease or Syndrome 10 14 0.100 None 0.960 25 7 2000 2018
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		disease Nervous System Diseases Disease or Syndrome 24 17 0.100 None 1.000 65 6 1997 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.500 None 1.000 38 6 1997 2019
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.200 None 0.969 32 6 1998 2019
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 36 9 0.200 None 0.958 24 5 1998 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 46 4 1988 2017
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.170 None 1.000 7 4 1999 2008
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.130 None 1.000 3 4 2015 2017
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 4 2015 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 46 3 1988 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.100 None 1.000 13 3 2000 2018
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.200 None 0.900 10 3 1997 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.200 None 1.000 10 3 1997 2012
CUI: C1832903
Disease: MIGRAINE, SPORADIC HEMIPLEGIC
MIGRAINE, SPORADIC HEMIPLEGIC 		disease Nervous System Diseases Disease or Syndrome 2 4 0.180 None 1.000 8 3 2002 2014
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.430 moderate 1.000 4 3 2015 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.110 None 1.000 2 3 2015 2015
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 1.000 1 3 2015 2015
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0 3
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		disease Nervous System Diseases Disease or Syndrome 87 56 0.200 None 0.889 18 2 2002 2018
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 67 14 0.100 None 1.000 1 2 2015 2015