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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
disease Disease or Syndrome 1 28 0.700 None 1.000 22 28 1996 2017
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: C0154674
Disease: Symptomatic torsion dystonia
Symptomatic torsion dystonia
disease Nervous System Diseases Disease or Syndrome 1 0.200 None 0
CUI: C0154675
Disease: Fragments of torsion dystonia
Fragments of torsion dystonia
disease Nervous System Diseases Disease or Syndrome 1 0.200 None 0
CUI: C0393601
Disease: Idiopathic non-familial dystonia
Idiopathic non-familial dystonia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.200 None 0
MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA
disease Finding 1 1 0.100 None 0 1
EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
disease Finding 1 1 0.100 None 0 1
CUI: C4021571
Disease: Abnormal vestibulo-ocular reflex
Abnormal vestibulo-ocular reflex
disease Anatomical Abnormality 1 0.100 None 0
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: C0856636
Disease: Transient hemiparesis
Transient hemiparesis
disease Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C1735856
Disease: Migraine with Typical Aura
Migraine with Typical Aura
disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 7 0.010 None 1.000 1 2016 2016
CUI: C2677843
Disease: Episodic Ataxia, Type 7
Episodic Ataxia, Type 7
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2008 2008
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 11 0.010 None 1.000 1 2019 2019
CUI: C0477373
Disease: Other forms of migraine
Other forms of migraine
group Nervous System Diseases Disease or Syndrome 2 0.200 None 0
Transient unilateral blurring of vision
phenotype Finding 2 0.100 None 0
CUI: C0270860
Disease: Basilar-Type Migraine
Basilar-Type Migraine
disease Nervous System Diseases Disease or Syndrome 3 3 0.020 None 1.000 2 1 2006 2009
Hemiplegia-hemiconvulsion-epilepsy syndrome
disease Nervous System Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1 2011 2011
CUI: C0585544
Disease: Downbeat nystagmus
Downbeat nystagmus
phenotype Eye Diseases; Nervous System Diseases Finding 3 2 0.100 None 1.000 1 2 2015 2015
CUI: C0701824
Disease: Staggering gait
Staggering gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Wounds and Injuries Sign or Symptom 3 0.010 None 1.000 1 2002 2002
CUI: C4699189
Disease: Nonprogressive/congenital
Nonprogressive/congenital
disease Congenital Abnormality 3 0.010 None 1.000 1 2017 2017
Prolonged Electroretinal Response Suppression
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 3 2 0.100 None 0
CUI: C0231690
Disease: Titubation
Titubation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 5 0.010 None 1.000 1 2002 2002
CUI: C0278110
Disease: Hemiplegia, Crossed
Hemiplegia, Crossed
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2008 2008
CUI: C0852996
Disease: Progressive cerebellar degeneration
Progressive cerebellar degeneration
disease Disease or Syndrome 5 0.010 None 1.000 1 2000 2000