| Monarch Ortholog Phenotypes
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Human (10 sources):
Abnormality of neutrophils,
Congestive heart failure,
Dilated cardiomyopathy,
EMG abnormality,
Elevated circulating creatine kinase concentration,
Lipoatrophy,
Myopathy,
Palmoplantar keratoderma,
Sensorineural hearing impairment,
Sudden cardiac death
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Mouse (18 sources):
abnormal R wave,
abnormal circulating aspartate transaminase level,
abnormal exercise endurance,
abnormal freezing behavior,
abnormal heart echocardiography feature,
abnormal myocardial fiber morphology,
abnormal sarcomere morphology,
cardiac fibrosis,
cardiovascular system phenotype,
decreased cardiac muscle contractility,
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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.