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: 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: 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: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.310 None 1.000 2 2011 2012
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: 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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 1996 2010
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: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.020 None 1.000 2 2015 2018
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: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		disease Disease or Syndrome 1 3 0.720 None 1.000 2 3 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: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None < 0.001 1 1995 1995
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2011 2011
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 21 0.010 None 1.000 1 2002 2002
CUI: C0021670
Disease: insulinoma
insulinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 258 8 0.010 None 1.000 1 1995 1995
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2003 2003
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 170 178 0.010 None 1.000 1 1 2014 2014
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.010 None 1.000 1 2017 2017
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 199 24 0.010 None 1.000 1 2011 2011
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 150 17 0.010 None 1.000 1 2005 2005
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 485 24 0.010 None 1.000 1 1 2016 2016
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: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.010 None 1.000 1 2002 2002