| Monarch Ortholog Phenotypes
|
Human (35 sources):
Aminoaciduria,
Anemia,
Ataxia,
Cytochrome C oxidase-negative muscle fibers,
Decreased liver function,
Exercise intolerance,
Exertional dyspnea,
Failure to thrive,
Generalized hypotonia,
Global developmental delay,
Glycosuria,
Hepatomegaly,
High palate,
Hyperphosphaturia,
Hypertrophic cardiomyopathy,
Hypotonia,
Increased CSF lactate,
Increased circulating lactate concentration,
Increased hepatocellular lipid droplets,
Increased intramyocellular lipid droplets,
Intellectual disability,
Lactic acidosis,
Leukoencephalopathy,
Motor delay,
Optic atrophy,
Pigmentary retinopathy,
Proteinuria,
Ptosis,
Renal Fanconi syndrome,
Renal tubular dysfunction,
Respiratory distress,
Respiratory insufficiency due to muscle weakness,
Seizure,
Sensorineural hearing impairment,
Weakness of facial musculature
[+]
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|
Mouse (11 sources):
abnormal mitochondrial physiology,
decreased body size,
decreased kidney copper level,
decreased liver copper level,
decreased spleen white pulp amount,
hematopoietic system phenotype,
increased liver cholesterol level,
increased liver triglyceride level,
increased spleen iron level,
premature death,
[+]
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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.