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: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.040 None 1.000 4 2016 2019
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 27 29 0.010 None 1.000 1 2019 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.110 None 1.000 1 2019 2019
Aromatic amino acid decarboxylase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 7 0.010 None 1.000 1 2019 2019
CUI: C1291312
Disease: Deficiency of oxidase
Deficiency of oxidase
disease Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
Deficiency of glutamate decarboxylase
disease Disease or Syndrome 2 0.300 None 1.000 1 2016 2016
Deficiency of aromatic-L-amino-acid decarboxylase
disease Disease or Syndrome 7 16 0.010 None 1.000 1 2019 2019
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT
disease Nervous System Diseases Disease or Syndrome 25 26 0.510 None 1.000 1 2016 2016
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 8 0.010 None 1.000 1 2019 2019
CUI: C2931835
Disease: Hyperprolinemia type 2
Hyperprolinemia type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 5 0.010 None 1.000 1 2019 2019
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
disease Disease or Syndrome 1 6 0.600 strong 1.000 1 6 2016 2016
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.100 None 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
disease Disease or Syndrome 271 13 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype Nervous System Diseases Finding 227 27 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 62 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
Abnormality of metabolism/homeostasis
phenotype Finding 171 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