| Monarch Ortholog Phenotypes
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Human (31 sources):
Abnormal cerebellum morphology,
Anteverted nares,
Ataxia,
Babinski sign,
Bulbous nose,
Cerebellar atrophy,
Distal sensory impairment,
Dysmetria,
Exotropia,
Flexion contracture,
Gait disturbance,
Generalized hypotonia,
Global developmental delay,
Hyperreflexia,
Hyporeflexia,
Hypotonia,
Inverted nipples,
Muscle weakness,
Myoclonus,
Narrow forehead,
Narrow palate,
Nystagmus,
Optic atrophy,
Pes cavus,
Progressive visual loss,
Respiratory insufficiency,
Scoliosis,
Steppage gait,
Tapered finger,
Tented upper lip vermilion,
Tremor
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Mouse (20 sources):
abnormal Purkinje cell dendrite morphology,
abnormal Purkinje cell morphology,
abnormal fasting circulating glucose level,
abnormal grip strength,
abnormal locomotor behavior,
abnormal neuromuscular synapse morphology,
abnormal node of Ranvier morphology,
abnormal retina ganglion cell dendrite morphology,
abnormal retina ganglion cell morphology,
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.