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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
disease Disease or Syndrome 11 76 0.100 None 1.000 37 50 1991 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 19 1 1997 2014
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 19 1 1997 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.040 None 1.000 4 2005 2015
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.030 None 1.000 3 2006 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 0.667 3 2010 2014
CUI: C4085238
Disease: MYOCLONIC-ATONIC EPILEPSY
MYOCLONIC-ATONIC EPILEPSY
disease Disease or Syndrome 6 16 0.030 None 1.000 3 2005 2012
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy
disease Disease or Syndrome 30 3 0.020 None 1.000 2 1 2014 2014
CUI: C0424574
Disease: Duration of sleep
Duration of sleep
phenotype Finding 104 203 0.100 None 1.000 2 2 2019 2019
Sudden unexplained death in epilepsy
disease Disease or Syndrome 12 0.020 None 1.000 2 2013 2013
Adverse Event Associated with Cardiac Arrhythmia
phenotype Disease or Syndrome 42 5 0.020 None 1.000 2 2016 2018
CUI: C2062593
Disease: Mesial temporal sclerosis
Mesial temporal sclerosis
disease Disease or Syndrome 8 0.020 None 1.000 2 2012 2019
CUI: C0233397
Disease: Psychological symptom
Psychological symptom
phenotype Sign or Symptom 33 12 0.010 None 1.000 1 1 2013 2013
CUI: C0270816
Disease: epilepsy and migraine
epilepsy and migraine
disease Disease or Syndrome 7 1 0.010 None 1.000 1 2013 2013
CUI: C0521857
Disease: Increased drug resistance
Increased drug resistance
phenotype Disease or Syndrome 47 0.010 None 1.000 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 3 2018 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
phenotype Sign or Symptom 69 23 0.010 None 1.000 1 2017 2017
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis
disease Disease or Syndrome 84 14 0.010 None 1.000 1 1 2012 2012
CUI: C2349453
Disease: Familial migraine
Familial migraine
disease Disease or Syndrome 5 0.010 None 1.000 1 2009 2009
CUI: C3496069
Disease: cocaine use
cocaine use
disease Mental or Behavioral Dysfunction 67 8 0.300 None 1.000 1 2003 2003
Sudden Unexplained Death in Childhood
disease Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C4531100
Disease: Negative affectivity
Negative affectivity
disease Mental or Behavioral Dysfunction 17 8 0.010 None 1.000 1 1 2013 2013
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2014 2014