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: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA
disease Disease or Syndrome 2 11 0.890 1.000 15 11 2005 2015
CUI: C3888081
Disease: L-2-hydroxyglutaric acidemia
L-2-hydroxyglutaric acidemia
disease Disease or Syndrome 1 6 0.800 3 6 2005 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.510 strong 1.000 2 2012 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.400 1 2006 2006
Combined D-2- and L-2-hydroxyglutaric aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 6 11 0.380 1.000 11 2005 2015
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 62 1 0.300 1 2006 2006
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 1 2006 2006
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 1 2012 2012
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 60 0.300 1 2006 2006
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 1 2012 2012
CUI: C0265541
Disease: Cranioschisis
Cranioschisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 11 0.300 1 2006 2006
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.300 1 2012 2012
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 51 0.300 1 2006 2006
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.300 strong 0
CUI: C0270612
Disease: Leukoencephalopathies
Leukoencephalopathies
group Nervous System Diseases Disease or Syndrome 85 6 0.110 1.000 1 2013 2013
CUI: C1836550
Disease: Loss of developmental milestones
Loss of developmental milestones
phenotype Finding 149 0.100 0
CUI: C0973461
Disease: Dysphasia
Dysphasia
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 40 0.100 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Disease or Syndrome 153 2 0.100 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 293 1 0.100 0
Intellectual disability, progressive
phenotype Finding 43 0.100 0
CUI: C1850493
Disease: Psychomotor regression, progressive
Psychomotor regression, progressive
phenotype Finding 149 0.100 0
CUI: C1855009
Disease: Psychomotor regression in infants
Psychomotor regression in infants
phenotype Finding 152 9 0.100 0
CUI: C1855019
Disease: Psychomotor regression
Psychomotor regression
phenotype Finding 149 0.100 0
CUI: C4255213
Disease: Increased size of skull
Increased size of skull
phenotype Finding 212 0.100 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference
phenotype Finding 214 0.100 0