| Monarch Ortholog Phenotypes
|
Human (26 sources):
Abdominal distention,
Abnormality of vitamin metabolism,
Acanthocytosis,
Areflexia,
Decreased LDL cholesterol concentration,
Diarrhea,
Elevated circulating hepatic transaminase concentration,
EMG: myopathic abnormalities,
Failure to thrive,
Fat malabsorption,
Growth delay,
Hepatic steatosis,
Hypoalbuminemia,
Hypocholesterolemia,
Hypotriglyceridemia,
Impaired proprioception,
Impaired vibratory sensation,
Increased hepatocellular lipid droplets,
Intellectual disability,
Malnutrition,
Myopathy,
Reduced tendon reflexes,
Retinopathy,
Steatorrhea,
Visual impairment,
Vomiting
[+]
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|
Mouse (6 sources):
abnormal skin condition,
decreased circulating alanine transaminase level,
decreased circulating aspartate transaminase level,
decreased circulating free fatty acids level,
increased mean corpuscular hemoglobin,
preweaning lethality, complete penetrance
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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.