| Monarch Ortholog Phenotypes
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Human (29 sources):
Anxiety,
Ataxia,
Atonic seizure,
Atypical absence status epilepticus,
Autistic behavior,
Bilateral tonic-clonic seizure,
Bradykinesia,
Cognitive impairment,
Cortical dysplasia,
Developmental regression,
EEG with spike-wave complexes,
Febrile seizure (within the age range of 3 months to 6 years),
Focal impaired awareness seizure,
Focal-onset seizure,
Generalized cerebral atrophy/hypoplasia,
Generalized myoclonic seizure,
Generalized non-motor (absence) seizure,
Generalized-onset seizure,
Global developmental delay,
Hypotonia,
Incoordination,
Limited knee extension,
Obsessive-compulsive trait,
Pes planus,
Poor fine motor coordination,
Status epilepticus,
Talipes valgus,
Tibial torsion,
Tremor
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Mouse (15 sources):
abnormal AMPA-mediated synaptic currents,
abnormal CNS synaptic transmission,
abnormal GABA-mediated receptor currents,
abnormal adrenal chromaffin cell morphology,
abnormal excitatory postsynaptic currents,
abnormal miniature excitatory postsynaptic currents,
abnormal miniature inhibitory postsynaptic currents,
abnormal neuron physiology,
abnormal paired-pulse inhibition,
abnormal synapse morphology,
[+]
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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.