| Monarch Ortholog Phenotypes
|
Human (30 sources):
Abnormality of eye movement,
Abnormality of metabolism/homeostasis,
Aggressive behavior,
Anxiety,
Ataxia,
Autism,
Behavioral abnormality,
Bilateral tonic-clonic seizure,
Decreased succinic semialdehyde dehydrogenase level,
Delayed speech and language development,
EEG abnormality,
Elevated CSF 4-hydroxybutyric acid concentration,
Elevated CSF gamma-aminobutyric acid concentration,
Elevated urinary 4-hydroxybutyric acid,
Generalized hypotonia,
Generalized myoclonic seizure,
Generalized non-motor (absence) seizure,
Global developmental delay,
Hallucinations,
Hyperactivity,
Hyporeflexia,
Hypotonia,
Increased level of gamma-aminobutyric acid in urine,
Intellectual disability,
Motor delay,
Psychomotor retardation,
Psychosis,
Self-injurious behavior,
Status epilepticus,
obsolete Elevated circulating gamma-aminobutyric acid concentration
[+]
|
|
Mouse (8 sources):
abnormal amino acid level,
abnormal brain wave pattern,
decreased glutamine level,
homeostasis/metabolism phenotype,
increased beta-alanine level,
increased gamma-aminobutyric acid level,
postnatal lethality, complete penetrance,
tonic seizures
|
View all ortholog results at Monarch
|
Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.