| Monarch Ortholog Phenotypes
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Human (23 sources):
Abnormal lower motor neuron morphology,
Abnormality of the foot,
Areflexia,
Decreased motor nerve conduction velocity,
Decreased number of large peripheral myelinated nerve fibers,
Difficulty climbing stairs,
Difficulty walking,
Distal amyotrophy,
Distal muscle weakness,
Distal sensory impairment,
EMG: neuropathic changes,
Hammertoe,
Hyperlordosis,
Joint contracture of the hand,
Mildly elevated creatine kinase,
Pes cavus,
Proximal muscle weakness,
Respiratory insufficiency due to muscle weakness,
Scapuloperoneal amyotrophy,
Scoliosis,
Spinal muscular atrophy,
Talipes equinovarus,
Waddling gait
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Mouse (9 sources):
abnormal angiogenesis,
abnormal artery development,
abnormal coronary vessel morphology,
abnormal kidney blood vessel morphology,
abnormal vascular endothelial cell morphology,
decreased angiogenesis,
decreased ventricle muscle contractility,
impaired skin barrier function,
increased vascular permeability
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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.