| Monarch Ortholog Phenotypes
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Human (37 sources):
Areflexia,
Ataxia,
Babinski sign,
Clusters of axonal regeneration,
Decreased motor nerve conduction velocity,
Decreased number of peripheral myelinated nerve fibers,
Distal amyotrophy,
Distal muscle weakness,
Distal sensory impairment,
Elevated circulating creatine kinase concentration,
Facial palsy,
Flexion contracture,
Foot dorsiflexor weakness,
Gait disturbance,
Gowers sign,
Hammertoe,
High palate,
Hyporeflexia,
Hypotrophy of the small hand muscles,
Increased connective tissue,
Motor delay,
Myelin outfoldings,
Nemaline bodies,
Nystagmus,
Onion bulb formation,
Pes cavus,
Proximal muscle weakness,
Ptosis,
Scoliosis,
Segmental peripheral demyelination/remyelination,
Sensorimotor neuropathy,
Sensorineural hearing impairment,
Spasticity,
Split hand,
Steppage gait,
Ulnar claw,
Waddling gait
[+]
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Mouse (10 sources):
abnormal axon morphology,
abnormal cerebral cortex morphology,
abnormal dorsal root ganglion morphology,
abnormal pons morphology,
abnormal sciatic nerve morphology,
abnormal spinal cord grey matter morphology,
abnormal ventral spinal root morphology,
limb grasping,
nervous system inclusion bodies,
no abnormal phenotype detected
|
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.