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: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT
disease Disease or Syndrome 6 5 0.100 None 0 1
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 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: C1844690
Disease: Limited knee extension
Limited knee extension
phenotype Finding 11 0.100 None 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.100 None 0 2
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0 1
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C1843392
Disease: Death in childhood
Death in childhood
phenotype Finding 25 2 0.100 None 0 1
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay
phenotype Finding 39 24 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0 1
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size
phenotype Anatomical Abnormality 3 2 0.100 None 0 1
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0 1
CUI: C0241210
Disease: Speech Delay
Speech Delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.100 None 0 1
CUI: C4023479
Disease: EEG with focal sharp slow waves
EEG with focal sharp slow waves
phenotype Finding 6 0.100 None 0
CUI: C4023511
Disease: Obtundation status
Obtundation status
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C1846620
Disease: Hemiclonic seizures
Hemiclonic seizures
phenotype Nervous System Diseases Finding 5 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.100 None 0 1
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination
phenotype Finding 31 3 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0 1