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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
disease Mental or Behavioral Dysfunction 1 21 0.700 strong 1.000 9 21 2010 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.700 None 0.972 36 18 2000 2020
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 13 2017 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
disease Disease or Syndrome 1 12 0.700 strong 1.000 4 12 2014 2017
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.380 None 0.800 9 7 2003 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.430 strong 1.000 4 5 2013 2018
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 94 16 0.010 None 1.000 1 4 2019 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 1.000 13 3 2002 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 3 2018 2018
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 18 2 2007 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 0.938 16 2 2002 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.390 None 0.800 10 2 2005 2020
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.180 None 1.000 8 2 2007 2019
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 0.470 None 1.000 7 2 2010 2018
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.150 None 1.000 5 2 2014 2017
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
disease Nervous System Diseases Disease or Syndrome 73 23 0.010 None 1.000 1 2 2014 2014
CUI: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 67 14 0.110 None 1.000 1 2 2019 2019
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 0.010 None 1.000 1 2 2012 2012
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.010 None 1.000 1 2 2015 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2 2014 2014
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 2
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0 2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0 2
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0 2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype Finding 160 246 0.100 None 0 2