| Monarch Ortholog Phenotypes
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Human (30 sources):
Abnormal electroretinogram,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of retinal pigmentation,
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 (31 sources):
abnormal Langerhans cell physiology,
abnormal bony labyrinth,
abnormal ear morphology,
abnormal electroretinogram waveform feature,
abnormal hearing physiology,
abnormal photoreceptor inner segment morphology,
abnormal photoreceptor outer segment morphology,
abnormal retina neuronal layer morphology,
abnormal retina photoreceptor layer morphology,
abnormal retina pigment epithelium morphology,
abnormal retina vasculature morphology,
absent tunnel of Corti,
cochlear ganglion degeneration,
cochlear hair cell degeneration,
cochlear inner hair cell degeneration,
cochlear outer hair cell degeneration,
decreased retina photoreceptor cell number,
degeneration of organ of Corti supporting cells,
hearing/vestibular/ear phenotype,
increased food intake,
increased or absent threshold for auditory brainstem response,
increased retina apoptosis,
increased susceptibility to age related obesity,
increased susceptibility to weight gain,
increased total body fat amount,
organ of Corti degeneration,
photoreceptor outer segment degeneration,
retina deposits,
retina outer nuclear layer degeneration,
retina photoreceptor degeneration,
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.