| Monarch Ortholog Phenotypes
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Human (22 sources):
Agenesis of corpus callosum,
Autism,
Borderline personality disorder,
Cerebral atrophy,
Coloboma,
Delayed speech and language development,
Failure to thrive,
Generalized hypotonia,
Growth delay,
Hyperactivity,
Hypotonia,
Intellectual disability,
Lethargy,
Microcephaly,
Microphthalmia,
Motor delay,
Nystagmus,
Optic atrophy,
Reduced dihydropyrimidine dehydrogenase level,
Seizure,
Spasticity,
Tetraplegia
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|
Mouse (2 sources):
abnormal epididymis morphology,
increased vertical activity
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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.