Source: CURATED ×
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 1 60 1.000 None 0.988 21 60 1996 2019
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 34 11 1.000 None 0.986 12 11 1997 2019
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 1 22 0.800 None 0.966 15 21 1996 2018
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 7 0.760 strong 1.000 2 1996 2020
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		disease Disease or Syndrome 1 28 0.700 None 1.000 4 28 1996 2017
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 25 17 0.500 None 1.000 1 1997 2019
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 86 61 0.480 None 1.000 1 1999 2020
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 30 94 0.430 moderate 1.000 1 3 2015 2018
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		disease Eye Diseases Disease or Syndrome 6 40 0.430 None 1.000 1 1 2015 2020
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 34 1 0.400 None 1.000 2 1997 2019
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 4 0.400 None 1.000 1 2007 2007
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 34 1 0.320 None 1.000 2 1998 2007
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 34 0.310 None 1.000 2 2002 2007
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 34 0.310 None 1.000 2 2002 2007
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 0.310 None 1.000 1 2008 2008
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 7 0.310 None 1.000 1 2007 2020
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 0.300 None 1.000 2 2002 2007
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 34 5 0.300 None 1.000 2 2002 2007
CUI: C3494934
Disease: Benign paroxysmal torticollis of infancy
Benign paroxysmal torticollis of infancy 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.300 None 1.000 1 2002 2002
CUI: C4317339
Disease: Juvenile Absence Epilepsy
Juvenile Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
CUI: C4552765
Disease: Epilepsy, Minor
Epilepsy, Minor 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
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: C0751124
Disease: Epilepsy, Absence, Atypical
Epilepsy, Absence, Atypical 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
CUI: C0750940
Disease: Tremor, Rubral
Tremor, Rubral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2007 2007
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 5 0.300 None 1.000 1 2007 2007