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: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 111 10 0.020 1.000 2 1993 2007
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 33 6 0.020 1.000 2 1 2002 2013
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 168 241 0.010 1 2002 2002
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
disease Congenital Abnormality 65 2 0.010 1.000 1 2009 2009
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2005 2005
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 128 7 0.010 1.000 1 1993 1993
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease Congenital Abnormality 273 7 0.010 1.000 1 1993 1993
CUI: C4021813
Disease: Oral cleft
Oral cleft
disease Congenital Abnormality 32 0.010 1.000 1 2013 2013
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 59 132 0.400 1.000 21 1991 2007
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 59 15 0.400 0.909 11 2 1999 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
disease Disease or Syndrome 1 6 0.600 6 6 2013 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.440 1.000 5 1998 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.430 strong 1.000 4 2 2013 2018
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 118 3 0.030 1.000 3 1991 2007
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 180 11 0.020 1.000 2 1 2003 2012
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.320 1.000 2 2015 2016
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 32 382 0.020 1.000 2 2010 2017
CUI: C0001890
Disease: Akinetic Petit Mal
Akinetic Petit Mal
disease Nervous System Diseases Disease or Syndrome 8 0.300 1 2008 2008
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 63 22 0.010 1.000 1 2010 2010
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 54 15 0.010 1.000 1 1 2012 2012
Sleep Initiation and Maintenance Disorders
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 4 0.300 1 2002 2002
CUI: C0033139
Disease: Primary Insomnia
Primary Insomnia
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 7 1 0.300 1 2002 2002
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 128 293 0.010 1.000 1 2007 2007
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 66 14 0.010 1.000 1 2016 2016
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 62 1 0.300 1 2005 2005