CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
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: C1833362
Disease: Sleep-wake cycle disturbance
Sleep-wake cycle disturbance 		phenotype Finding 10 0.100 None 0
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
CUI: C0751257
Disease: Auditory Processing Disorder, Central
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: C0023009
Disease: Speech and language disorder
Speech and language disorder 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 11 2 0.020 None 1.000 2 2010 2018
CUI: C4019167
Disease: Speech Sound Disorders
Speech Sound Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 11 0.010 None 1.000 1 2015 2015
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 9 0.100 None 0.923 13 2010 2019
CUI: C0751529
Disease: Stuttering, Developmental
Stuttering, Developmental 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 4 0.310 None 1.000 2 2010 2014
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		phenotype Finding 14 3 0.100 None 0
CUI: C3840214
Disease: High-functioning autism
High-functioning autism 		disease Mental Disorders Mental or Behavioral Dysfunction 15 5 0.010 None < 0.001 1 2016 2016
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		disease Disease or Syndrome 16 1 0.100 None 0
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 18 0.310 None 1.000 4 2009 2011
CUI: C0026975
Disease: Myelitis
Myelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 22 0.010 None 1.000 1 2017 2017
CUI: C0458960
Disease: Peripheral neuropathic pain
Peripheral neuropathic pain 		phenotype Sign or Symptom 24 0.010 None 1.000 1 2018 2018
CUI: C0006325
Disease: Bruxism
Bruxism 		phenotype Stomatognathic Diseases Mental or Behavioral Dysfunction 24 9 0.100 None 0
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		phenotype Finding 25 3 0.100 None 0
CUI: C0338430
Disease: Limbic Encephalitis
Limbic Encephalitis 		disease Neoplasms; Infections; Nervous System Diseases Disease or Syndrome 27 0.080 None 1.000 8 2010 2019
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 31 2 0.100 None 0
CUI: C0751217
Disease: Hyperkinesia, Generalized
Hyperkinesia, Generalized 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 32 0.300 None 1.000 1 2011 2011
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 33 32 0.010 None 1.000 1 2 2018 2018
CUI: C0454651
Disease: Specific language impairment
Specific language impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 34 9 0.060 None 1.000 6 1 2011 2015
CUI: C0038506
Disease: Stuttering
Stuttering 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 34 8 0.320 None 0.500 2 2010 2014
CUI: C0266815
Disease: Cow milk allergy
Cow milk allergy 		phenotype Digestive System Diseases; Immune System Diseases Disease or Syndrome 38 0.100 None 0
CUI: C1695782
Disease: Cerebral hypoperfusion
Cerebral hypoperfusion 		disease Disease or Syndrome 40 1 0.010 None 1.000 1 2017 2017
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 40 4 0.100 None 0