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: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.010 None 1.000 1 2005 2005
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.010 None 1.000 1 2009 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 1994 1994
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0.879 33 1992 2009
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.100 None 0.875 32 1992 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.050 None 0.600 5 1992 2011
CUI: C1306341
Disease: Mental handicap
Mental handicap
disease Mental or Behavioral Dysfunction 26 1 0.050 None 1.000 5 1993 2000
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 103 5 0.040 None 1.000 4 1998 2003
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.030 None 1.000 3 1995 1996
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.030 None 1.000 3 1995 2009
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 24 2 0.030 None 1.000 3 1993 2000
CUI: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 67 14 0.030 None 1.000 3 1993 2000
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.020 None 1.000 2 1998 2002
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.020 None 1.000 2 1998 2002
CUI: C3825158
Disease: Learning disabled
Learning disabled
disease Mental or Behavioral Dysfunction 3 0.020 None 1.000 2 1999 2000
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.010 None 1.000 1 2009 2009
CUI: C0004444
Disease: Avoidant Personality Disorder
Avoidant Personality Disorder
phenotype Mental Disorders Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 1998 1998
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.010 None 1.000 1 1995 1995
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.010 None 1.000 1 2002 2002
CUI: C0031572
Disease: Phobia, Social
Phobia, Social
disease Mental Disorders Mental or Behavioral Dysfunction 33 8 0.010 None 1.000 1 1998 1998
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None < 0.001 1 1996 1996
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.010 None 1.000 1 2000 2000
CUI: C0476254
Disease: Dyslexia
Dyslexia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 118 30 0.010 None 1.000 1 2013 2013
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.010 None 1.000 1 2009 2009
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 1998 1998