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: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 1 4 0.740 None 1.000 7 4 2006 2016
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 0.400 None 1.000 1 2011 2011
CUI: C0029231
Disease: Organic Mental Disorders, Substance-Induced
Organic Mental Disorders, Substance-Induced 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0.300 None 1.000 1 2010 2010
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2011 2011
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 19 0.300 None 1.000 1 2010 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 16 0.300 None 1.000 1 2010 2010
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 128 20 0.300 None 1.000 1 2010 2010
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 248 31 0.300 None 1.000 1 2010 2010
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 185 20 0.300 None 1.000 1 2010 2010
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2011 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2011 2011
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse 		phenotype Chemically-Induced Disorders; Mental Disorders Finding 115 0.300 None 1.000 1 2010 2010
CUI: C0013146
Disease: Drug abuse
Drug abuse 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 405 39 0.300 None 1.000 1 2010 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation 		phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 196 19 0.300 None 1.000 1 2010 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 121 0.300 None 1.000 1 2010 2010
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.110 None 1.000 1 2012 2012
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 74 15 0.100 None 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		phenotype Finding 28 1 0.100 None 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype Finding 37 11 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		phenotype Finding 41 0.100 None 0
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		phenotype Finding 19 4 0.100 None 0