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: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.060 None 1.000 6 3 2013 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.060 None 1.000 6 2003 2018
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.040 None 1.000 4 2011 2018
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.410 None 1.000 3 97 2011 2013
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		disease Disease or Syndrome 1 3 0.720 None 1.000 2 3 2015 2018
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.310 None 1.000 2 2011 2012
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.310 None 1.000 2 2011 2012
CUI: C1860787
Disease: DOWN SYNDROME CRITICAL REGION
DOWN SYNDROME CRITICAL REGION 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 0.020 None 1.000 2 2011 2015
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.020 None 1.000 2 2015 2018
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 93 39 0.020 None 1.000 2 2016 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.020 None 1.000 2 2016 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.020 None 0.500 2 1995 1996
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 1996 2010
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.020 None 1.000 2 2015 2018
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.300 None 1.000 1 2005 2005
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2000 2000
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 54 180 0.100 None 1.000 1 96 2012 2012
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		group Chemically-Induced Disorders Disease or Syndrome 50 180 0.100 None 1.000 1 96 2012 2012
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 2 2019 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 24 0.010 None 1.000 1 2011 2011
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 74 46 0.010 None < 0.001 1 2000 2000
CUI: C0154575
Disease: Rumination Disorders
Rumination Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 33 13 0.010 None 1.000 1 2011 2011
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 99 12 0.010 None 1.000 1 2014 2014