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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0 2
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 0.100 None 1.000 14 1 1997 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.190 None 1.000 9 1 2015 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.650 None 0.875 8 1 2004 2018
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 175 112 0.050 None 1.000 5 1 2004 2016
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 276 69 0.040 None 1.000 4 1 2017 2019
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.040 None 1.000 4 1 2007 2018
CUI: C0236663
Disease: Alcohol withdrawal syndrome
Alcohol withdrawal syndrome 		disease Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 67 6 0.020 None 1.000 2 1 2009 2017
CUI: C2063866
Disease: Depressive Disorder, Treatment-Resistant
Depressive Disorder, Treatment-Resistant 		disease Mental Disorders Mental or Behavioral Dysfunction 66 19 0.020 None 1.000 2 1 2014 2017
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 94 67 0.020 None 0.500 2 1 2007 2012
CUI: C0013170
Disease: Drug habituation
Drug habituation 		phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 196 19 0.020 None 1.000 2 1 2010 2016
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 67 0.020 None 0.500 2 1 2007 2012
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2018 2018
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2013 2013
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		phenotype Laboratory Procedure 82 123 0.100 None 1.000 1 1 2012 2012
CUI: C3850153
Disease: Ovarian Reserve
Ovarian Reserve 		phenotype Organ or Tissue Function 2 4 0.100 None 1.000 1 1 2012 2012
CUI: C0424101
Disease: Inattention
Inattention 		phenotype Mental or Behavioral Dysfunction 66 22 0.010 None 1.000 1 1 2017 2017
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 1 2017 2017
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2017 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.110 None 1.000 1 1 2014 2014
CUI: C0920299
Disease: Overriding toe
Overriding toe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 0 1
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 0.100 None 0 1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 0 1
CUI: C0431447
Disease: Synophrys
Synophrys 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0 1