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: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.700 0.947 20 2008 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 0.640 strong 1.000 4 2006 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
disease Disease or Syndrome 3 46 0.610 1.000 33 46 1993 2018
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
disease Disease or Syndrome 1 2 0.600 2 2 2016 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.500 strong 1.000 13 5 2012 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.440 1.000 4 1998 2006
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.400 1 2006 2006
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
disease Disease or Syndrome 1 1 0.400 1 1 2006 2006
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 435 13 0.340 1.000 5 1999 2012
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 207 27 0.340 1.000 5 1998 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.310 1.000 2 2009 2010
CUI: C0234378
Disease: Static Tremor
Static Tremor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 38 0.310 1.000 2 2009 2009
CUI: C0040822
Disease: Tremor
Tremor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 225 27 0.310 < 0.001 2 2009 2009
Other generalized epilepsy and epileptic syndromes
disease Disease or Syndrome 2 0.300 definitive 8 1995 2015
CUI: C0234370
Disease: Persistent Tremor
Persistent Tremor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 9 0.300 1 2009 2009
CUI: C0037140
Disease: B Virus Infection
B Virus Infection
disease Virus Diseases Disease or Syndrome 3 0.300 1 2013 2013
CUI: C0234379
Disease: Resting Tremor
Resting Tremor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 21 1 0.300 1 2009 2009
CUI: C0234381
Disease: Darkness Tremor
Darkness Tremor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 9 0.300 1 2009 2009
CUI: C0235078
Disease: Tremor, Perioral
Tremor, Perioral
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 9 0.300 1 2009 2009
CUI: C0235081
Disease: Tremor, Limb
Tremor, Limb
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 12 0.300 1 2009 2009
CUI: C0235082
Disease: Tremor, Muscle
Tremor, Muscle
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 9 0.300 1 2009 2009
CUI: C0235083
Disease: Nerve Tremors
Nerve Tremors
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 9 0.300 1 2009 2009
CUI: C0235843
Disease: Tremor, Neonatal
Tremor, Neonatal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 9 0.300 1 2009 2009
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 66 14 0.300 1 2014 2014
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 220 7 0.300 1 2009 2009