| Monarch Ortholog Phenotypes
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Human (23 sources):
Babinski sign,
Distal sensory impairment,
EMG: neuropathic changes,
Elevated circulating creatine kinase concentration,
Frequent falls,
Hyporeflexia,
Impaired vibratory sensation,
Increased variability in muscle fiber diameter,
Lower limb amyotrophy,
Lower limb muscle weakness,
Muscle fiber splitting,
Myopathy,
Pes cavus,
Proximal muscle weakness,
Pyloric stenosis,
Ragged-red muscle fibers,
Rimmed vacuoles,
Sensorimotor neuropathy,
Sensory axonal neuropathy,
Somatic sensory dysfunction,
Upper limb amyotrophy,
Upper limb muscle weakness,
Waddling gait
[+]
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|
Mouse (8 sources):
abnormal axon extension,
abnormal axon morphology,
abnormal neuron differentiation,
abnormal sensory neuron morphology,
abnormal ventral spinal root morphology,
behavior/neurological phenotype,
convulsive seizures,
nervous system phenotype
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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.