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: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		phenotype Behavior and Behavior Mechanisms Pathologic Function 3 13 0.100 None 1.000 1 8 2017 2017
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 1.000 1 3 2017 2017
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 31 24 0.100 None 1.000 1 4 2017 2017
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.310 None 1.000 1 2013 2013
CUI: C0458247
Disease: Allodynia
Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 84 0.300 None 1.000 1 2010 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.040 None 1.000 4 6 2005 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.010 None 1.000 1 2017 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.210 None 1.000 1 1 2018 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.520 None 1.000 2 2011 2019
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 221 82 0.010 None 1.000 1 2019 2019
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 423 112 0.010 None 1.000 1 2019 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2019 2019
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 144 3 0.300 None 1.000 1 2004 2004
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 199 39 0.310 None 1.000 2 2004 2014
CUI: C3496069
Disease: cocaine use
cocaine use 		disease Mental or Behavioral Dysfunction 67 8 0.010 None 1.000 1 1 2014 2014
CUI: C0236736
Disease: Cocaine-Related Disorders
Cocaine-Related Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 121 0.300 None 1.000 1 2004 2004
CUI: C0149654
Disease: Conduct Disorder
Conduct Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 34 18 0.010 None 1.000 1 1 2011 2011
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 2 5 0.100 None 1.000 1 1 2017 2017
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		phenotype Finding 77 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 1.000 1 8 2017 2017
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.020 None 1.000 2 2006 2011
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar 		disease Mental Disorders Mental or Behavioral Dysfunction 116 2 0.200 None 0
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.320 None 1.000 2 2006 2011