| Monarch Ortholog Phenotypes
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Human (18 sources):
Abnormal rib cage morphology,
Decreased hip abduction,
Delayed gross motor development,
EMG: myopathic abnormalities,
Hip contracture,
Motor delay,
Myopathy,
Nemaline bodies,
Neonatal hypotonia,
Pectus carinatum,
[+]
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Mouse (9 sources):
abnormal muscle contractility,
abnormal muscle fiber morphology,
abnormal muscle relaxation,
abnormal skeletal muscle fiber type ratio,
abnormal skeletal muscle size,
decreased skeletal muscle fiber diameter,
decreased skeletal muscle fiber size,
increased skeletal muscle fiber diameter,
skeletal muscle fiber atrophy
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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.