| Monarch Ortholog Phenotypes
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Human (26 sources):
Abnormality of refraction,
Absent speech,
Attention deficit hyperactivity disorder,
Cerebral cortical atrophy,
Chorea,
Delayed ability to walk,
Failure to thrive,
Feeding difficulties,
Flexion contracture,
Global developmental delay,
Hypoplasia of the corpus callosum,
Inability to walk,
Intellectual disability,
Irritability,
Macrotia,
Microcephaly,
Myopia,
Neonatal hypotonia,
Nystagmus,
Optic nerve hypoplasia,
Seizure,
Short stature,
Spastic tetraplegia,
Spasticity,
Status epilepticus,
Strabismus
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Mouse (25 sources):
abnormal AMPA-mediated synaptic currents,
abnormal action potential,
abnormal excitatory postsynaptic potential,
abnormal glutamate-mediated receptor currents,
abnormal inhibitory postsynaptic potential,
abnormal neuron physiology,
abnormal object recognition memory,
abnormal seizure response to pharmacological agent,
abnormal social investigation,
abnormal spatial reference memory,
abnormal spatial working memory,
abnormal spike wave discharge,
behavior/neurological phenotype,
decreased exploration in new environment,
decreased grip strength,
decreased prepulse inhibition,
decreased startle reflex,
decreased vertical activity,
impaired ability to fire action potentials,
increased anxiety-related response,
increased physiological sensitivity to xenobiotic,
increased thermal nociceptive threshold,
increased vertical activity,
induced hyperactivity,
nervous system phenotype
[+]
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View all ortholog results at Monarch
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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.