| Monarch Ortholog Phenotypes
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Human (24 sources):
Abnormal electroretinogram,
Abnormality of neuronal migration,
Abnormality of retinal pigmentation,
Abnormal optic disc morphology,
Aplasia/Hypoplasia of the cerebellar vermis,
Bull's eye maculopathy,
Cataract,
Encephalocele,
Global developmental delay,
Hearing impairment,
Hemiplegia/hemiparesis,
High hypermetropia,
Hypermetropia,
Hypotonia,
Intellectual disability,
Keratoconus,
Macular degeneration,
Nystagmus,
Retinitis pigmentosa inversa,
Seizure,
Severely reduced visual acuity,
Undetectable electroretinogram,
Visual impairment,
Visual loss
[+]
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Mouse (8 sources):
abnormal cone electrophysiology,
abnormal photoreceptor outer segment morphology,
abnormal retina photoreceptor layer morphology,
abnormal rod electrophysiology,
disorganized photoreceptor outer segment,
nervous system phenotype,
short photoreceptor inner segment,
short photoreceptor outer segment
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View all ortholog results at Monarch
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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.