| Monarch Ortholog Phenotypes
|
Human (29 sources):
Acute encephalopathy,
Bilateral tonic-clonic seizure with focal onset,
Cardiomegaly,
Clumsiness,
Coma,
Confusion,
Congestive heart failure,
Decreased carnitine level in liver,
Decreased plasma carnitine,
Elevated circulating hepatic transaminase concentration,
Encephalopathy,
Endocardial fibroelastosis,
Excessive daytime somnolence,
Failure to thrive,
Generalized hypotonia,
Hepatic steatosis,
Hepatomegaly,
Hyperammonemia,
Hypertrophic cardiomyopathy,
Hypoglycemia,
Hypotonia,
Impaired gluconeogenesis,
Lethargy,
Muscle weakness,
Myopathy,
Neck muscle weakness,
Recurrent hypoglycemia,
Reduced muscle carnitine level,
Vomiting
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Mouse (13 sources):
abnormal bone mineralization,
abnormal corpus epididymis morphology,
abnormal epididymis morphology,
abnormal hepatocyte morphology,
abnormal renal reabsorption,
cardiac hypertrophy,
embryonic lethality prior to organogenesis,
increased bone mineral content,
increased epididymis weight,
pale liver,
[+]
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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.