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: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 5 0.800 1.000 23 5 2003 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.700 1.000 28 2005 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.600 strong 1.000 10 2006 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.500 0.970 33 2 2007 2018
CUI: C0241210
Disease: Speech Delay
Speech Delay
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 212 0.410 1.000 3 2006 2009
CUI: C0023012
Disease: Language Delay
Language Delay
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 205 0.400 2 2006 2007
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15
disease Mental or Behavioral Dysfunction 2 2 0.400 1 2 2010 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.380 1.000 8 2010 2018
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 169 7 0.320 0.500 3 2006 2016
CUI: C0338831
Disease: Manic
Manic
disease Mental Disorders Mental or Behavioral Dysfunction 92 6 0.310 1.000 1 2013 2013
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders
group Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 12 0.300 2 2006 2007
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 2 2006 2007
Auditory Processing Disorder, Central
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 0.300 2 2006 2007
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 1 2006 2006
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 1 2006 2006
CUI: C0564408
Disease: Manic mood
Manic mood
phenotype Finding 4 0.300 1.000 1 2013 2013
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.300 1 2006 2006
Child Development Disorders, Specific
group Mental Disorders Mental or Behavioral Dysfunction 23 0.300 1 2006 2006
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations
phenotype Mental Disorders Mental or Behavioral Dysfunction 23 0.300 1 2006 2006
Other specified types of schizophrenia, unspecified
disease Mental or Behavioral Dysfunction 52 0.200 1 2016 2016
CUI: C0220702
Disease: SCHIZOPHRENIA 1 (disorder)
SCHIZOPHRENIA 1 (disorder)
disease Mental or Behavioral Dysfunction 57 0.200 1 2016 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.110 1.000 1 2013 2013
CUI: C0221358
Disease: Long narrow head
Long narrow head
phenotype Congenital Abnormality 93 4 0.110 1.000 1 2012 2012
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 1 1 2015 2015
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 1 1 2015 2015