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: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.120 None 1.000 2 1 2013 2014
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.120 None 1.000 2 2 2004 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2016 2016
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.110 None 1.000 1 2018 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.110 None 1.000 1 2017 2017
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.110 None 1.000 1 1 2007 2007
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.110 None 1.000 1 2016 2016
CUI: C0542476
Disease: Forgetful
Forgetful 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.110 None 1.000 1 2018 2018
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.110 None 1.000 1 2017 2017
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.110 None 1.000 1 2019 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 34 2 1991 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 34 2 1991 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.100 None 1.000 13 2013 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 2 2018 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 1.000 1 1 2017 2017
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1314691
Disease: Age at menarche
Age at menarche 		phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2019 2019
CUI: C0042571
Disease: Vertigo
Vertigo 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.100 None 1.000 1 1 2010 2010
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 2 2019 2019
CUI: C2825856
Disease: Factor VII measurement
Factor VII measurement 		phenotype Laboratory Procedure 16 36 0.100 None 1.000 1 1 2019 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2018 2018
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 98 8 0.100 None 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.100 None 0 1