| Monarch Ortholog Phenotypes
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Human (26 sources):
Abnormal cranial nerve morphology,
Abnormal pupillary light reflex,
Axonal degeneration,
Basal lamina onion bulb formation,
Constrictive median neuropathy,
Decreased motor nerve conduction velocity,
Decreased number of large peripheral myelinated nerve fibers,
Delayed brainstem auditory evoked response conduction time,
Difficulty walking,
Distal amyotrophy,
Distal muscle weakness,
Distal sensory impairment,
Facial palsy,
Hearing impairment,
Mononeuropathy,
Motor delay,
Nystagmus,
Peripheral axonal degeneration,
Peripheral axonal neuropathy,
Pes cavus,
Polyneuropathy,
Scoliosis,
Segmental peripheral demyelination,
Tongue atrophy,
Tongue fasciculations,
Upper limb muscle weakness
[+]
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Mouse (9 sources):
abnormal Schwann cell morphology,
abnormal axon morphology,
abnormal node of Ranvier morphology,
decreased circulating glucose level,
decreased grip strength,
decreased myelin sheath thickness,
limb grasping,
nervous system phenotype,
skeleton 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.