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: 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 0.440 strong 1.000 4 2009 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 1 2006 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.700 1.000 31 5 2008 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.400 1.000 23 2 2008 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.390 1.000 9 1 2008 2016
CUI: C0454651
Disease: Specific language impairment
Specific language impairment
disease Disease or Syndrome 24 8 0.070 1.000 7 2 2008 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.460 1.000 7 2008 2015
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 7 0.800 5 7 2006 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.050 0.800 5 2011 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.140 1.000 4 2008 2016
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 4 32 0.340 1.000 4 2009 2013
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders
group Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 12 0.310 1.000 4 2009 2011
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
group Mental Disorders Mental or Behavioral Dysfunction 128 13 0.040 1.000 4 2010 2016
CUI: C0241210
Disease: Speech Delay
Speech Delay
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 212 0.310 1.000 4 2010 2011
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases Disease or Syndrome 96 24 0.030 1.000 3 2004 2010
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 708 59 0.430 1.000 3 2011 2016
Auditory Processing Disorder, Central
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 0.300 3 2011 2011
CUI: C0476254
Disease: Dyslexia
Dyslexia
disease Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 79 10 0.030 1.000 3 2011 2015
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 11 0.300 3 2011 2011
CUI: C0023015
Disease: Language Disorders
Language Disorders
group Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 52 9 0.030 1.000 3 2 2012 2015
CUI: C0023012
Disease: Language Delay
Language Delay
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 205 0.300 3 2011 2011
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 60 0.300 2 2010 2011
CUI: C0014038
Disease: Encephalitis
Encephalitis
disease Nervous System Diseases Disease or Syndrome 143 5 0.020 1.000 2 2010 2011
CUI: C0038506
Disease: Stuttering
Stuttering
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 9 7 0.320 1.000 2 2011 2015
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 2 2010 2011