| Monarch Ortholog Phenotypes
|
Human (35 sources):
Abnormal macrophage morphology,
Achilles tendon contracture,
Broad-based gait,
Calf muscle hypertrophy,
Calf muscle pseudohypertrophy,
Difficulty climbing stairs,
Difficulty running,
EMG: myopathic abnormalities,
EMG: myotonic discharges,
EMG: myotonic runs,
EMG: positive sharp waves,
Elevated circulating creatine kinase concentration,
Flexion contracture,
Frequent falls,
Gowers sign,
Hyperlordosis,
Increased endomysial connective tissue,
Increased variability in muscle fiber diameter,
Left ventricular systolic dysfunction,
Long face,
Lumbar hyperlordosis,
Macroglossia,
Muscle fiber necrosis,
Muscular dystrophy,
Neck flexor weakness,
Pneumonia,
Restrictive ventilatory defect,
Right ventricular dilatation,
Right ventricular hypertrophy,
Scapular winging,
Scoliosis,
Skeletal muscle atrophy,
Tip-toe gait,
Upper limb muscle weakness,
Waddling gait
[+]
|
Mouse (21 sources):
abnormal diaphragm morphology,
abnormal muscle regeneration,
abnormal skeletal muscle morphology,
abnormal tibialis anterior morphology,
behavior/neurological phenotype,
cardiac fibrosis,
coronary artery spasm,
decreased body size,
decreased heart weight,
decreased locomotor activity,
decreased skeletal muscle mass,
increased skeletal muscle fiber size,
increased skeletal muscle mass,
increased variability of skeletal muscle fiber size,
muscle degeneration,
muscle phenotype,
premature death,
skeletal muscle interstitial fibrosis,
skeletal muscle necrosis,
thick diaphragm muscle,
thick ventricular wall
[+]
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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.