| Monarch Ortholog Phenotypes
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Human (12 sources):
Abnormality of neutrophils,
Cardiomyopathy,
Dilated cardiomyopathy,
EMG abnormality,
Elevated circulating creatine kinase concentration,
Lipoatrophy,
Myopathy,
Palmoplantar keratoderma,
Paroxysmal atrial fibrillation,
Sensorineural hearing impairment,
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Mouse (20 sources):
abnormal actin cytoskeleton morphology,
abnormal heart echocardiography feature,
abnormal intercalated disk morphology,
abnormal myocardial fiber physiology,
cardiac fibrosis,
cardiac hypertrophy,
cardiac interstitial fibrosis,
decreased cardiac muscle contractility,
decreased response of heart to induced stress,
decreased ventricle muscle contractility,
dilated heart left ventricle,
enlarged myocardial fiber,
increased cardiac muscle contractility,
increased heart weight,
increased left ventricle weight,
increased lung weight,
increased variability of skeletal muscle fiber size,
myocardial fiber disarray,
postnatal lethality, incomplete penetrance,
premature death
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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.