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: 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 4 11 2001 2011
CUI: C4552043
Disease: Cortical dysplasia with focal epilepsy syndrome
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 3 2006 2018
CUI: C0038131
Disease: Stammering
Stammering 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1 0.300 None 1.000 1 2010 2010
CUI: C0454542
Disease: Stuttering, Acquired
Stuttering, Acquired 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2010 2010
CUI: C0477972
Disease: Other specified congenital malformations of brain
Other specified congenital malformations of brain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 0.200 None 1.000 1 2011 2011
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
CUI: C2910100
Disease: Arnold-Chiari syndrome, type IV
Arnold-Chiari syndrome, type IV 		disease Disease or Syndrome 1 0.200 None 1.000 1 2011 2011
CUI: C4751168
Disease: Pitt Hopkins-like syndrome
Pitt Hopkins-like syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
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: C1843793
Disease: Progressive language deterioration
Progressive language deterioration 		phenotype Finding 2 0.100 None 0
CUI: C2930824
Disease: Autoimmune limbic encephalitis
Autoimmune limbic encephalitis 		disease Neoplasms; Infections; Immune System Diseases; Nervous System Diseases Disease or Syndrome 3 0.020 None 1.000 2 2017 2019
CUI: C0751528
Disease: Stuttering, Childhood
Stuttering, Childhood 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 2 0.300 None 1.000 1 2010 2010
CUI: C3854373
Disease: Morvan syndrome
Morvan syndrome 		disease Nervous System Diseases Disease or Syndrome 4 0.060 None 0.833 6 2017 2019
CUI: C0751919
Disease: Acquired Neuromyotonia
Acquired Neuromyotonia 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.020 None 1.000 2 2018 2019
CUI: C0349391
Disease: Apraxia, Verbal
Apraxia, Verbal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2014 2014
CUI: C1857280
Disease: Infra-orbital crease
Infra-orbital crease 		phenotype Finding 4 1 0.100 None 0
CUI: C0478658
Disease: Disorder of psychological development
Disorder of psychological development 		group Mental Disorders Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2017 2017
CUI: C2004345
Disease: phonological developmental disorder
phonological developmental disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2015 2015
CUI: C0239154
Disease: High pitched cry
High pitched cry 		phenotype Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C1853618
Disease: Perivascular spaces
Perivascular spaces 		phenotype Finding 5 0.100 None 0
CUI: C0236818
Disease: Selective Mutism
Selective Mutism 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 6 2 0.020 None 1.000 2 2 2011 2013
CUI: C1456326
Disease: Selective mutism specific to childhood and adolescence
Selective mutism specific to childhood and adolescence 		phenotype Mental or Behavioral Dysfunction 6 2 0.020 None 1.000 2 2 2011 2013
CUI: C4022908
Disease: Cerebral white matter hypoplasia
Cerebral white matter hypoplasia 		phenotype Finding 8 3 0.100 None 0
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 9 58 0.340 None 1.000 4 2009 2012
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		disease Finding 9 3 0.100 None 0 3