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: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.600 0.941 24 1 2007 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.600 1.000 23 2008 2016
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 13 2008 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.400 0.946 38 4 2008 2016
CUI: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2
disease Disease or Syndrome 1 2 0.400 1 2 2009 2009
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.400 strong 0
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: C0241210
Disease: Speech Delay
Speech Delay
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 212 0.320 1.000 3 2010 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.320 1.000 3 2012 2016
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 2 2009 2011
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 574 137 0.310 1.000 1 2010 2010
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.310 1.000 1 2010 2010
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 2 2008 2017
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 2 2008 2017
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 2 2008 2017
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2008 2008
Auditory Processing Disorder, Central
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 0.300 1 2011 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 1 2011 2011
CUI: C0023012
Disease: Language Delay
Language Delay
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 205 0.300 1 2011 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 16 2 0.300 1 2008 2008
CUI: C3280524
Disease: SCHIZOPHRENIA 17
SCHIZOPHRENIA 17
disease Disease or Syndrome 1 0.300 0
CUI: C3808494
Disease: CHROMOSOME 2p16.3 DELETION SYNDROME
CHROMOSOME 2p16.3 DELETION SYNDROME
disease Disease or Syndrome 1 0.300 0
Other specified transient cerebral ischemias
disease Disease or Syndrome 154 0.200 1 2002 2002
Other specified types of schizophrenia, unspecified
disease Mental or Behavioral Dysfunction 52 0.200 1 2009 2009
CUI: C0220702
Disease: SCHIZOPHRENIA 1 (disorder)
SCHIZOPHRENIA 1 (disorder)
disease Mental or Behavioral Dysfunction 57 0.200 1 2009 2009