CNTNAP2, contactin associated protein 2, 26047

N. diseases: 30; N. variants: 33
Source: CURATED ×
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: 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 11 0.900 strong 1.000 2 11 2001 2011
Cortical dysplasia with focal epilepsy syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.810 strong 1.000 1 2006 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 85 75 0.700 None 0.976 4 1 2008 2020
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.500 None 0.975 4 1 2008 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 109 90 0.400 None 1.000 2 2008 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 883 1629 0.400 None 1.000 1 2008 2019
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 58 0.340 None 1.000 1 2009 2012
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 268 231 0.320 None 1.000 1 2014 2019
CUI: C0038506
Disease: Stuttering
Stuttering
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1 0.320 None 0.500 1 2010 2014
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 11 0.310 None 1.000 3 2009 2011
CUI: C0241210
Disease: Speech Delay
Speech Delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 11 8 0.310 None 1.000 3 2010 2011
CUI: C0751529
Disease: Stuttering, Developmental
Stuttering, Developmental
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.310 None 1.000 1 2010 2014
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 259 88 0.310 None 1.000 1 2013 2013
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 243 1103 0.310 None 1.000 1 2013 2013
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 32 2 0.310 None 1.000 1 2011 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 477 552 0.310 None 1.000 1 2010 2010
CUI: C0023012
Disease: Language Delay
Language Delay
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 0.300 None 1.000 3 2010 2011
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 11 0.300 None 1.000 3 2010 2011
Auditory Processing Disorder, Central
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.300 None 1.000 3 2010 2011
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 2 2010 2011
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 82 0.300 None 1.000 2 2010 2011
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 2 2010 2011
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 16 0.300 None 1.000 1 2010 2010
CUI: C0751528
Disease: Stuttering, Childhood
Stuttering, Childhood
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2010 2010
CUI: C0751527
Disease: Stuttering, Adult
Stuttering, Adult
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2010 2010