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 7 0.800 5 7 2006 2017
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15
phenotype Finding 1 2 0.100 2 2 2008 2008
CUI: C0038131
Disease: Stammering
Stammering
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1 0.300 1 2011 2011
CUI: C0236818
Disease: Selective Mutism
Selective Mutism
phenotype Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1 2 0.010 1.000 1 2 2011 2011
CUI: C0454542
Disease: Stuttering, Acquired
Stuttering, Acquired
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.300 1 2011 2011
Other specified congenital malformations of brain
disease Congenital Abnormality 1 0.200 1 2011 2011
CUI: C0751527
Disease: Stuttering, Adult
Stuttering, Adult
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.300 1 2011 2011
CUI: C0751528
Disease: Stuttering, Childhood
Stuttering, Childhood
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.300 1 2011 2011
Selective mutism specific to childhood and adolescence
phenotype Mental or Behavioral Dysfunction 1 2 0.010 1.000 1 2 2011 2011
CUI: C2910100
Disease: Arnold-Chiari syndrome, type IV
Arnold-Chiari syndrome, type IV
disease Disease or Syndrome 1 0.200 1 2011 2011
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 15 0.300 1 2011 2011
CUI: C1843793
Disease: Progressive language deterioration
Progressive language deterioration
phenotype Finding 2 0.100 0
CUI: C0751901
Disease: Tic, Vocal
Tic, Vocal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 3 0.010 1.000 1 2007 2007
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: C0150080
Disease: Social Communication Disorder
Social Communication Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 6 1 0.100 0
CUI: C3840214
Disease: High-functioning autism
High-functioning autism
disease Mental or Behavioral Dysfunction 7 1 0.010 < 0.001 1 2016 2016
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: C0751529
Disease: Stuttering, Developmental
Stuttering, Developmental
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 9 2 0.310 1.000 2 2011 2015
CUI: C0349391
Disease: Apraxia, Verbal
Apraxia, Verbal
disease Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 9 1 0.010 1.000 1 2015 2015
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 18 0.020 1.000 2 2010 2011
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
Auditory Processing Disorder, Central
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 0.300 3 2011 2011
CUI: C0424166
Disease: Social Anxiety
Social Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 11 6 0.010 1.000 1 2011 2011
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: C0338430
Disease: Limbic Encephalitis
Limbic Encephalitis
disease Neoplasms; Nervous System Diseases Disease or Syndrome 13 0.010 1.000 1 2010 2010