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: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12
disease Disease or Syndrome 1 1 0.700 2 1 2016 2016
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.300 strong 1 2016 2016
CUI: C0270612
Disease: Leukoencephalopathies
Leukoencephalopathies
group Nervous System Diseases Disease or Syndrome 85 6 0.110 1.000 1 1 2016 2016
CUI: C4280574
Disease: Problems speaking
Problems speaking
phenotype Finding 72 0.100 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Finding 75 2 0.100 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 41 2 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype Finding 10 3 0.100 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 57 0.100 0
CUI: C1820737
Disease: Temperature instability
Temperature instability
phenotype Finding 5 0.100 0
CUI: C1527347
Disease: Difficulty speaking
Difficulty speaking
phenotype Finding 72 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
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Finding 47 3 0.100 0
CUI: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders
group Nervous System Diseases Disease or Syndrome 43 2 0.100 0
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 0.100 0
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation
phenotype Finding 8 0.100 0
CUI: C1850530
Disease: Flexion contractures of joints
Flexion contractures of joints
phenotype Anatomical Abnormality 134 0.100 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
phenotype Pathologic Function 45 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
CUI: C4020873
Disease: Infratentorial atrophy
Infratentorial atrophy
disease Disease or Syndrome 166 8 0.100 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease Disease or Syndrome 51 0.100 0
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 0.100 0
CUI: C3279038
Disease: Body temperature instability
Body temperature instability
phenotype Finding 5 0.100 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 203 5 0.100 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
phenotype Finding 15 2 0.100 0