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.
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
disease Disease or Syndrome 1 4 0.600 None 1.000 2 4 2012 2016
CUI: C0271616
Disease: Precocious female puberty
Precocious female puberty
disease Endocrine System Diseases Disease or Syndrome 1 1 0.100 None 0 1
SCN8A-related epilepsy with encephalopathy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 52 0.720 None 1.000 30 52 2002 2017
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
disease Disease or Syndrome 2 6 0.700 None 1.000 3 5 2014 2016
CUI: C4023491
Disease: Interictal epileptiform activity
Interictal epileptiform activity
phenotype Finding 2 2 0.100 None 0 1
CUI: C0037140
Disease: B Virus Infection
B Virus Infection
disease Infections Disease or Syndrome 3 0.300 None 1.000 1 2013 2013
Developmental stagnation at onset of seizures
phenotype Finding 3 2 0.100 None 0 1
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
phenotype Finding 3 2 0.100 None 0 1
CUI: C0234357
Disease: Adiadochokinesis
Adiadochokinesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 0.300 None 1.000 1 2006 2006
CUI: C0750994
Disease: Cerebellar Hemiataxia
Cerebellar Hemiataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 0.300 None 1.000 1 2006 2006
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 9 0.300 None 1.000 1 2016 2016
CUI: C3668822
Disease: Hypermetria (finding)
Hypermetria (finding)
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2006 2006
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG
phenotype Finding 4 1 0.100 None 0
CUI: C1849683
Disease: No social interaction
No social interaction
phenotype Mental Disorders Finding 5 3 0.100 None 0 1
CUI: C1851936
Disease: Paroxysmal choreoathetosis
Paroxysmal choreoathetosis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.100 None 0
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases
phenotype Finding 6 4 0.100 None 0 1
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 8 0.100 None 0 2
CUI: C0040827
Disease: Saturnine Tremor
Saturnine Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0149840
Disease: Senile Tremor
Senile Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0234370
Disease: Persistent Tremor
Persistent Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0234371
Disease: Continuous Tremor
Continuous Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0234372
Disease: Intermittent Tremor
Intermittent Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0234373
Disease: Fine Tremor
Fine Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0234374
Disease: Coarse Tremor
Coarse Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009
CUI: C0234375
Disease: Massive Tremor
Massive Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2009 2009