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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2012 2012
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2012 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2017 2017
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		disease Endocrine System Diseases Disease or Syndrome 32 2 0.010 None 1.000 1 2006 2006
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		disease Nervous System Diseases Disease or Syndrome 184 35 0.010 None 1.000 1 2015 2015
CUI: C0748607
Disease: Recurrent seizure
Recurrent seizure 		disease Nervous System Diseases Disease or Syndrome 44 1 0.010 None 1.000 1 2016 2016
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 16 3 0.010 None 1.000 1 2018 2018
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 107 9 0.010 None 1.000 1 1 2014 2014
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 2018 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2001 2001
CUI: C0029376
Disease: Juvenile osteochondrosis of tibial tubercle
Juvenile osteochondrosis of tibial tubercle 		disease Musculoskeletal Diseases Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C0029429
Disease: Osteochondrosis
Osteochondrosis 		disease Musculoskeletal Diseases Disease or Syndrome 9 0.010 None 1.000 1 2006 2006
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 104 6 0.010 None 1.000 1 2016 2016
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2018 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2012 2012
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.010 None 1.000 1 3 2016 2016
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 354 33 0.010 None 1.000 1 2006 2006
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 93 39 0.010 None 1.000 1 2016 2016
CUI: C0729346
Disease: Osteochondritis juvenilis
Osteochondritis juvenilis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54 0.010 None 1.000 1 2016 2016
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.010 None 1.000 1 2007 2007
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		disease Mental Disorders Mental or Behavioral Dysfunction 376 98 0.010 None 1.000 1 2009 2009
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 33 13 0.010 None 1.000 1 2006 2006
CUI: C0312422
Disease: Blackout - symptom
Blackout - symptom 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Sign or Symptom 4 0.010 None 1.000 1 2006 2006
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2012 2012