| Monarch Ortholog Phenotypes
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Human (23 sources):
Achilles tendon contracture,
Calf muscle hypertrophy,
Calf muscle pseudohypertrophy,
Cardiomyopathy,
Difficulty climbing stairs,
EMG: myopathic abnormalities,
Elevated circulating creatine kinase concentration,
Flexion contracture,
Frequent falls,
Gowers sign,
Hyperlordosis,
Limb-girdle muscle atrophy,
Limb-girdle muscle weakness,
Limb-girdle muscular dystrophy,
Limited shoulder movement,
Muscular dystrophy,
Proximal muscle weakness,
Scapular winging,
Scoliosis,
Thoracic scoliosis,
Unsteady gait,
Waddling gait,
obsolete Toe walking
[+]
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Mouse (13 sources):
abnormal circulating pyruvate kinase level,
abnormal muscle contractility,
abnormal muscle fiber morphology,
abnormal sarcolemma morphology,
cardiac fibrosis,
cardiac muscle necrosis,
heart inflammation,
homeostasis/metabolism phenotype,
impaired skeletal muscle contractility,
increased extensor digitorum longus weight,
[+]
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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.