| Monarch Ortholog Phenotypes
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Human (30 sources):
Abnormal electroretinogram,
Abnormality of fundus pigmentation,
Abnormality of retinal pigmentation,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Anteverted nares,
Atypical scarring of skin,
Blindness,
Cataract,
Conductive hearing impairment,
Constriction of peripheral visual field,
Glaucoma,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Intellectual disability,
Keratoconus,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Photophobia,
Progressive night blindness,
Rod-cone dystrophy,
Sensorineural hearing impairment,
Type II diabetes mellitus,
Visual impairment,
Wide nasal bridge
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Mouse (5 sources):
abnormal eye electrophysiology,
abnormal photoreceptor outer segment morphology,
retina photoreceptor degeneration,
short photoreceptor outer segment,
thin retina outer nuclear layer
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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.