| Monarch Ortholog Phenotypes
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Human (25 sources):
Abnormality of neutrophils,
Areflexia of lower limbs,
Calf muscle hypertrophy,
Difficulty climbing stairs,
Difficulty running,
Difficulty walking,
Dilated cardiomyopathy,
Distal lower limb amyotrophy,
Distal lower limb muscle weakness,
EMG abnormality,
Elevated circulating creatine kinase concentration,
Foot dorsiflexor weakness,
Increased connective tissue,
Increased variability in muscle fiber diameter,
Left ventricular hypertrophy,
Lipoatrophy,
Muscular dystrophy,
Myopathy,
Palmoplantar keratoderma,
Proximal muscle weakness in lower limbs,
Proximal muscle weakness in upper limbs,
Proximal upper limb amyotrophy,
Rimmed vacuoles,
Sensorineural hearing impairment,
Wolff-Parkinson-White syndrome
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Mouse (11 sources):
abnormal sarcomere morphology,
cardiac fibrosis,
cardiac hypertrophy,
cardiovascular system phenotype,
decreased cardiomyocyte apoptosis,
decreased response of heart to induced stress,
decreased skeletal muscle fiber diameter,
increased cardiomyocyte apoptosis,
increased response of heart to induced stress,
muscle phenotype,
[+]
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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.