| Monarch Ortholog Phenotypes
|
Human (26 sources):
Abnormality of eye movement,
Ataxia,
Decreased activity of the pyruvate dehydrogenase complex,
Dystonia,
Epicanthus,
Global developmental delay,
High palate,
Hyperalaninemia,
Hypertelorism,
Increased serum pyruvate,
Intellectual disability,
Lactic acidosis,
Metabolic acidosis,
Microcephaly,
Neonatal hypotonia,
Optic atrophy,
Partial agenesis of the corpus callosum,
Pectus excavatum,
Poor fine motor coordination,
Poor gross motor coordination,
Seizure,
Spastic paraplegia,
Spastic tetraplegia,
Subependymal cysts,
Trigonocephaly,
Unsteady gait
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|
|
Mouse (4 sources):
abnormal retina blood vessel morphology,
abnormal retina vasculature morphology,
persistence of hyaloid vascular system,
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.