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
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: 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
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: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 46 4 1988 2017
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.400 None 1.000 28 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: 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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
disease Disease or Syndrome 1 28 0.700 None 1.000 22 28 1996 2017
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: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.100 None 0.938 16 1997 2014
Dentatorubral-Pallidoluysian Atrophy
disease Nervous System Diseases Disease or Syndrome 95 0.100 None 1.000 16 1998 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.100 None 1.000 13 3 2000 2018
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 135 12 0.100 None 1.000 13 1998 2017
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.200 None 0.900 10 1 1998 2015
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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 89 17 0.760 strong 1.000 7 1996 2020
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: C1720983
Disease: Channelopathies
Channelopathies
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.060 None 1.000 6 2002 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.050 None 1.000 5 2011 2020
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.050 None 1.000 5 1998 2019
Autosomal dominant cerebellar ataxia
disease Disease or Syndrome 31 2 0.050 None 1.000 5 1997 2008
CUI: C0338480
Disease: Common Migraine
Common Migraine
disease Nervous System Diseases Disease or Syndrome 77 62 0.040 None 0.750 4 1 2003 2016
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