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: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Disease or Syndrome 7 47 0.600 3 4 2002 2011
Childhood Ataxia with Central Nervous System Hypomyelinization
disease Nervous System Diseases Disease or Syndrome 30 57 0.600 3 4 2002 2011
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 166 0.300 strong 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.300 strong 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
phenotype Finding 15 2 0.100 0
CUI: C1836550
Disease: Loss of developmental milestones
Loss of developmental milestones
phenotype Finding 149 0.100 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Disease or Syndrome 153 2 0.100 0
CUI: C4255213
Disease: Increased size of skull
Increased size of skull
phenotype Finding 212 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
Psychomotor regression beginning in infancy
phenotype Finding 149 0.100 0
CUI: C1857121
Disease: Neurodevelopmental regression
Neurodevelopmental regression
phenotype Finding 149 0.100 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference
phenotype Finding 214 0.100 0
CUI: C4025319
Disease: Cessation of head growth
Cessation of head growth
phenotype Anatomical Abnormality 5 0.100 0
CUI: C1858995
Disease: Decreased circulating progesterone
Decreased circulating progesterone
phenotype Finding 5 0.100 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency
phenotype Finding 10 0.100 0
CUI: C1859678
Disease: Mental deterioration in childhood
Mental deterioration in childhood
phenotype Finding 149 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C0751295
Disease: Memory Loss
Memory Loss
phenotype Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 125 2 0.100 0
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype Sign or Symptom 58 0.100 0
CUI: C0011253
Disease: Delusions
Delusions
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 32 9 0.100 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 281 19 0.100 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.100 0