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, 11
disease Disease or Syndrome 1 65 0.700 None 1.000 38 65 2004 2019
Early infantile epileptic encephalopathy, refractory
disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C1842382
Disease: Epilepsy, Benign Neonatal, 3
Epilepsy, Benign Neonatal, 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
Epilepsy, Familial Mesial Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 2 1 0.010 None < 0.001 1 2006 2006
CUI: C3151685
Disease: Seizures in the newborn, refractory
Seizures in the newborn, refractory
disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
disease Disease or Syndrome 3 21 0.010 None 1.000 1 2020 2020
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 46 0.660 None 0.970 33 46 2001 2018
CUI: C0857345
Disease: Late onset epilepsy
Late onset epilepsy
disease Nervous System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2010 2010
Convulsions, Benign Familial Infantile, 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2012 2012
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG
phenotype Finding 4 1 0.100 None 0
CUI: C3539063
Disease: Bart's Hemoglobinopathy
Bart's Hemoglobinopathy
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2020 2020
CUI: C2674512
Disease: Truncal titubation
Truncal titubation
phenotype Finding 5 2 0.100 None 0 1
Epilepsy of infancy with migrating focal seizures
disease Nervous System Diseases Disease or Syndrome 7 2 0.020 None 1.000 2 2015 2019
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 7 17 0.010 None 1.000 1 2020 2020
Acute encephalopathy with biphasic seizures and late reduced diffusion
disease Nervous System Diseases Disease or Syndrome 8 1 0.020 None 1.000 2 2015 2015
CUI: C0863106
Disease: Afebrile seizure
Afebrile seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 1 2002 2002
Febrile infection related epilepsy syndrome
disease Nervous System Diseases Disease or Syndrome 8 2 0.010 None 1.000 1 1 2012 2012
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 20 0.010 None 1.000 1 2006 2006
CUI: C3889476
Disease: Benign Familial Convulsion
Benign Familial Convulsion
disease Nervous System Diseases Disease or Syndrome 9 7 0.010 None 1.000 1 2006 2006
Migrating partial seizures in infancy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2006 2006
CUI: C1844690
Disease: Limited knee extension
Limited knee extension
phenotype Finding 11 0.100 None 0
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section
phenotype Finding 11 15 0.100 None 0 1
Sudden unexplained death in epilepsy
disease Disease or Syndrome 12 0.010 None 1.000 1 2016 2016
CUI: C0426900
Disease: Tibial torsion
Tibial torsion
phenotype Finding 12 1 0.100 None 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures
disease Nervous System Diseases Disease or Syndrome 12 1 0.100 None 0