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.
Well Differentiated Oligodendroglioma
disease Neoplasms Neoplastic Process 270 22 0.010 None 1.000 1 2010 2010
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.200 None 1.000 1 2017 2017
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.310 None 1.000 1 3 2013 2013
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency
disease Cardiovascular Diseases Disease or Syndrome 60 5 0.100 None 0
CUI: C0040100
Disease: Thymoma
Thymoma
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 20 0.040 None 0.750 4 2017 2018
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 211 25 0.100 None 0
CUI: C0423113
Disease: Telecanthus
Telecanthus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0
CUI: C0949664
Disease: Tauopathies
Tauopathies
group Nervous System Diseases Disease or Syndrome 245 43 0.010 None 1.000 1 2017 2017
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 16 0.010 None 1.000 1 1 2010 2010
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: 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: 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: 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: 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: 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: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder
phenotype Mental Disorders Mental or Behavioral Dysfunction 192 26 0.100 None 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior
disease Behavior and Behavior Mechanisms Individual Behavior 135 0.100 None 0
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: 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: C0037822
Disease: Speech Disorders
Speech Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.010 None 1.000 1 2010 2010
CUI: C0241210
Disease: Speech Delay
Speech Delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.310 None 1.000 4 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: 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