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: C0009171
Disease: Cocaine Abuse
Cocaine Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 144 3 0.300 None 1.000 1 2006 2006
CUI: C4022810
Disease: Abnormality of nervous system morphology
Abnormality of nervous system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Anatomical Abnormality 13 0.300 moderate 1.000 1 2018 2018
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		disease Disease or Syndrome 58 20 0.300 moderate 1.000 1 2018 2018
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 0.300 moderate 1.000 1 2018 2018
CUI: C0031391
Disease: Phencyclidine Abuse
Phencyclidine Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2006 2006
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.300 None 1.000 1 2011 2011
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 2006 2006
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.300 moderate 1.000 1 2018 2018
CUI: C0236735
Disease: Cannabis-Related Disorder
Cannabis-Related Disorder 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 10 0.300 None 1.000 1 2006 2006
CUI: C0236742
Disease: Phencyclidine-Related Disorders
Phencyclidine-Related Disorders 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2006 2006
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.300 moderate 1.000 1 2018 2018
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 23 0.300 None 1.000 1 2006 2006
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 199 39 0.300 None 1.000 1 2006 2006
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.300 moderate 1.000 1 2018 2018
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.300 moderate 1.000 1 2018 2018
CUI: C0006870
Disease: Cannabis Dependence
Cannabis Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 40 13 0.300 None 1.000 1 2006 2006
CUI: C0006868
Disease: Cannabis Abuse
Cannabis Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 19 8 0.300 None 1.000 1 2006 2006
CUI: C0018614
Disease: Hashish Abuse
Hashish Abuse 		disease Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 10 0.300 None 1.000 1 2006 2006
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 31 24 0.300 moderate 1.000 1 2018 2018
CUI: C0029531
Disease: Other cataract
Other cataract 		disease Eye Diseases Disease or Syndrome 32 0.200 None 1.000 1 2006 2006
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.120 None 1.000 2 1 2010 2014
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.100 None 1.000 1 1 2010 2010
CUI: C4748427
Disease: SQUALENE SYNTHASE DEFICIENCY
SQUALENE SYNTHASE DEFICIENCY 		disease Disease or Syndrome 1 2 0.100 None 1.000 1 2 2018 2018
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012