| Monarch Ortholog Phenotypes
|
Human (38 sources):
Abnormality of movement,
Acidosis,
Anemia,
Apnea,
Decreased activity of mitochondrial respiratory chain,
Decreased activity of the pyruvate dehydrogenase complex,
Dysarthria,
Dystonia,
Emotional lability,
Failure to thrive,
Focal T2 hyperintense basal ganglia lesion,
Generalized hypotonia,
Global developmental delay,
Hearing impairment,
Hyperreflexia,
Hypertrichosis,
Hypertrophic cardiomyopathy,
Hypotonia,
Increased CSF lactate,
Increased circulating lactate concentration,
Intellectual disability, severe,
Intrauterine growth retardation,
Lactic acidosis,
Leukodystrophy,
Nystagmus,
Ophthalmoplegia,
Optic atrophy,
Peripheral neuropathy,
Pigmentary retinopathy,
Poor head control,
Progressive cerebellar ataxia,
Progressive spastic paraplegia,
Ptosis,
Respiratory insufficiency,
Seizure,
Spasticity,
Strabismus,
Ventricular septal defect
[+]
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|
Mouse (1 source):
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.