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: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		disease Nervous System Diseases Disease or Syndrome 6 14 0.020 None 1.000 2 1 1997 2004
CUI: C0270749
Disease: Marie Cerebellar Ataxia
Marie Cerebellar Ataxia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2001 2001
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		phenotype Finding 6 6 0.100 None 1.000 1 1 2015 2015
CUI: C0001890
Disease: Akinetic Petit Mal
Akinetic Petit Mal 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
CUI: C0270816
Disease: epilepsy and migraine
epilepsy and migraine 		disease Disease or Syndrome 7 1 0.300 strong 1.000 1 1996 1996
CUI: C0395920
Disease: Migrainous vertigo
Migrainous vertigo 		disease Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2006 2006
CUI: C1835265
Disease: Lymphedema, microcephaly and chorioretinopathy syndrome
Lymphedema, microcephaly and chorioretinopathy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 23 0.010 None 1.000 1 2019 2019
CUI: C4553705
Disease: Absence Seizure Disorder
Absence Seizure Disorder 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 4 0.310 None 1.000 1 2008 2008
CUI: C0751124
Disease: Epilepsy, Absence, Atypical
Epilepsy, Absence, Atypical 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2007 2007
CUI: C4552765
Disease: Epilepsy, Minor
Epilepsy, Minor 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2007 2007
CUI: C0476217
Disease: Head movements abnormal
Head movements abnormal 		phenotype Nervous System Diseases Finding 8 2 0.100 None 0
CUI: C0028850
Disease: Ocular Motility Disorders
Ocular Motility Disorders 		group Eye Diseases; Nervous System Diseases Disease or Syndrome 9 0.020 None 1.000 2 2000 2016
CUI: C0271386
Disease: Vertical Nystagmus
Vertical Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 2 0.110 None 1.000 1 2008 2008
CUI: C0393524
Disease: Cerebellar Ataxia, Late Onset
Cerebellar Ataxia, Late Onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2000 2000
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		disease Nervous System Diseases Disease or Syndrome 9 0.200 None 0
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: 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: C1853394
Disease: Gaze-evoked horizontal nystagmus
Gaze-evoked horizontal nystagmus 		phenotype Eye Diseases; Nervous System Diseases Finding 10 1 0.100 None 0
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		group Anatomical Abnormality 10 7 0.100 None 0 1
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 47 0.010 None 1.000 1 2018 2018
CUI: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		disease Disease or Syndrome 11 0.010 None 1.000 1 2003 2003
CUI: C4280747
Disease: Choking episodes
Choking episodes 		phenotype Pathologic Function 12 1 0.100 None 0
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: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 7 0.010 None 1.000 1 2001 2001