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 Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 37 1.000 0.962 68 35 1996 2017
Spinocerebellar Ataxia Type 6 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 47 8 1.000 0.979 64 6 1997 2016
Hemiplegic migraine, familial type 1
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 9 24 0.700 0.900 59 17 1995 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
disease Disease or Syndrome 1 4 0.600 6 4 2006 2017
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 59 15 0.550 1.000 5 2005 2015
CUI: C1832903
Disease: MIGRAINE, SPORADIC HEMIPLEGIC
MIGRAINE, SPORADIC HEMIPLEGIC
disease Nervous System Diseases Disease or Syndrome 3 18 0.460 0.833 18 15 1996 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.410 strong 1.000 1 2016 2016
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
disease Eye Diseases Disease or Syndrome 22 46 0.410 1.000 1 1 2015 2015
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.400 1.000 40 8 1997 2017
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 207 27 0.400 1.000 33 4 1997 2017
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 115 3 0.400 1.000 23 1997 2016
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine
disease Disease or Syndrome 8 5 0.400 0.889 18 4 2000 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.320 strong 4 2008 2016
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 54 0.310 1.000 3 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 71 1 0.310 1.000 3 2002 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 78 3 0.310 1.000 3 1998 2007
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 1 0.310 1.000 1 2008 2008
CUI: C4302111
Disease: Familial Ménière disease
Familial Ménière disease
disease Disease or Syndrome 124 0.300 limited 3 1996 2017
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 36 0.300 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 45 4 0.300 2 2002 2007
CUI: C0001890
Disease: Akinetic Petit Mal
Akinetic Petit Mal
disease Nervous System Diseases Disease or Syndrome 8 0.300 1 2007 2007
CUI: C0278161
Disease: Ataxia, Motor
Ataxia, Motor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 15 0.300 1 2008 2008
CUI: C4317339
Disease: Juvenile Absence Epilepsy
Juvenile Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 8 0.300 1 2007 2007
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 11 0.300 1 2007 2007
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 39 0.300 1 2008 2008