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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.500 strong 0.958 25 4 2007 2018
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Disease or Syndrome 47 14 0.200 1.000 23 2003 2015
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.170 1.000 7 2003 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.170 1.000 7 2008 2013
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
disease Mental or Behavioral Dysfunction 192 24 0.160 1.000 6 1 2008 2013
Severe mental retardation (I.Q. 20-34)
disease Mental or Behavioral Dysfunction 223 19 0.040 1.000 4 2003 2010
CUI: C0021294
Disease: Infant, Premature
Infant, Premature
phenotype Finding 277 21 0.010 1.000 1 2015 2015
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
group Sign or Symptom 100 8 0.010 1.000 1 2013 2013
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy
disease Disease or Syndrome 7 1 0.010 1.000 1 2015 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 54 2 0.010 1.000 1 2013 2013
Delayed speech and language development
phenotype Finding 219 39 0.100 1 1 2015 2015
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplastic Process 1655 87 0.010 1.000 1 2013 2013
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Mental or Behavioral Dysfunction 53 4 0.010 1.000 1 2016 2016
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma
disease Neoplastic Process 96 54 0.300 1 1 2007 2007
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 115 20 0.010 1.000 1 2017 2017
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 1 1 2015 2015
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
disease Disease or Syndrome 3 8 0.200 1 2014 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
disease Disease or Syndrome 3 3 0.200 1 2014 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
disease Disease or Syndrome 3 44 0.200 1 2014 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
disease Disease or Syndrome 3 34 0.200 1 2014 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
disease Disease or Syndrome 4 1 0.200 1 2014 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
disease Disease or Syndrome 3 46 0.200 1 2014 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
disease Disease or Syndrome 3 11 0.200 1 2014 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
disease Disease or Syndrome 3 0.200 1 2014 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
disease Disease or Syndrome 3 6 0.200 1 2014 2014