| Monarch Ortholog Phenotypes
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Human (40 sources):
Abnormality of the musculature,
Arrhythmia,
Atrioventricular block,
Bradycardia,
Cardiomyopathy,
Cardiorespiratory arrest,
Coma,
Cyanosis,
Decreased circulating carnitine concentration,
Decreased urine output,
Dicarboxylic aciduria,
Elevated circulating acylcarnitine concentration,
Elevated circulating creatine kinase concentration,
Elevated circulating hepatic transaminase concentration,
Elevated creatine kinase after exercise,
Encephalopathy,
Fasting hypoglycemia,
Generalized hypotonia,
Global developmental delay,
Hepatic failure,
Hepatomegaly,
Hyperammonemia,
Hypoglycemia,
Hypoketotic hypoglycemia,
Hypotension,
Hypothermia,
Hypotonia,
Irritability,
Lethargy,
Microcephaly,
Muscle weakness,
Nystagmus,
Preeclampsia,
Premature ventricular contraction,
Respiratory insufficiency,
Rhabdomyolysis,
Seizure,
Sudden episodic apnea,
Ventricular hypertrophy,
Ventricular tachycardia
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Mouse (14 sources):
abnormal dorsal pancreas topology,
abnormal Mullerian duct morphology,
abnormal vitelline vein topology,
abnormal Wolffian duct topology,
double ureter,
ductus venosus stenosis,
embryo cyst,
herniated liver,
jugular vein stenosis,
multiple persisting craniopharyngeal ducts,
[+]
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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.