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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2012 2012
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2012 2012
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2012 2012
CUI: C0011253
Disease: Delusions
Delusions 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 62 15 0.010 None < 0.001 1 1999 1999
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2012 2012
CUI: C0700178
Disease: Alcoholic blackout
Alcoholic blackout 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2006 2006
CUI: C0013146
Disease: Drug abuse
Drug abuse 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 405 39 0.010 None 1.000 1 2009 2009
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.020 None 1.000 2 1999 2009
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		disease Nervous System Diseases Disease or Syndrome 46 2 0.020 None 1.000 2 2006 2016
CUI: C0376338
Disease: Diagnosis, Psychiatric
Diagnosis, Psychiatric 		disease Mental Disorders Mental or Behavioral Dysfunction 46 1 0.020 None < 0.001 2 1998 1999
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.030 None 1.000 3 2010 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.040 None 1.000 4 2016 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.090 None 1.000 9 3 2006 2019
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 11 1 1997 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 11 1 1997 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 11 1 1997 2016
CUI: C1970160
Disease: Epilepsy, Childhood Absence, Susceptibility To, 4
Epilepsy, Childhood Absence, Susceptibility To, 4 		phenotype Nervous System Diseases Finding 1 3 0.100 None 1.000 4 3 2014 2016
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C4023685
Disease: EEG with spike-wave complexes (2.5-3.5 Hz)
EEG with spike-wave complexes (2.5-3.5 Hz) 		phenotype Finding 6 0.100 None 0
CUI: C4023701
Disease: Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition 		phenotype Finding 15 0.100 None 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.100 None 0
CUI: C0679136
Disease: Low self-esteem
Low self-esteem 		phenotype Behavior and Behavior Mechanisms Finding 10 0.100 None 0
CUI: C4477055
Disease: Limb myoclonus
Limb myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 1 0.100 None 0
CUI: C1846620
Disease: Hemiclonic seizures
Hemiclonic seizures 		phenotype Nervous System Diseases Finding 5 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1