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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2011 2011
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 0.020 None 1.000 2 1995 1996
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None 1.000 1 1997 1997
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2011 2011
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2019 2019
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 2004 2004
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2015 2015
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.010 None 1.000 1 2011 2011
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 16 3 0.020 None 1.000 2 2000 2001
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 126 30 0.020 None 1.000 2 1994 1994
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		disease Nervous System Diseases Disease or Syndrome 95 0.010 None 1.000 1 1994 1994
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.020 None 1.000 2 1997 1998
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.020 None 1.000 2 1996 2001
CUI: C0743101
Disease: developmentally delayed
developmentally delayed 		phenotype Disease or Syndrome 11 0.020 None 0.500 2 1995 1996
CUI: C0233585
Disease: Foot tapping
Foot tapping 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2000 2000
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 194 11 0.090 None 1.000 9 1996 2007
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 1 0.040 None 1.000 4 1997 2001
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 2 0.060 None 1.000 6 1997 2011
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.010 None 1.000 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.020 None 1.000 2 1997 1998
CUI: C3840214
Disease: High-functioning autism
High-functioning autism 		disease Mental Disorders Mental or Behavioral Dysfunction 15 5 0.010 None 1.000 1 1997 1997
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.020 None 1.000 2 1994 2004
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None < 0.001 1 1996 1996
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 0.974 39 1993 2014
CUI: C0795841
Disease: Jacobsen Distal 11q Deletion Syndrome
Jacobsen Distal 11q Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 28 2 0.020 None 0.500 2 2008 2012