| Monarch Ortholog Phenotypes
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Human (53 sources):
Abnormal choroid morphology,
Abnormal electroretinogram,
Abnormal foveal morphology,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of macular pigmentation,
Abnormality of retinal pigmentation,
Abnormality of visual evoked potentials,
Anteverted nares,
Aplasia/Hypoplasia of the macula,
Attenuation of retinal blood vessels,
Atypical scarring of skin,
Blindness,
Bone spicule pigmentation of the retina,
Bull's eye maculopathy,
Cataract,
Central scotoma,
Cleft palate,
Color vision defect,
Conductive hearing impairment,
Cone/cone-rod dystrophy,
Constriction of peripheral visual field,
Glaucoma,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Intellectual disability,
Keratoconus,
Macular degeneration,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Optic disc pallor,
Orofacial cleft,
Paroxysmal involuntary eye movements,
Photophobia,
Progressive night blindness,
Reduced visual acuity,
Retinal pigment epithelial atrophy,
Retinal pigment epithelial mottling,
Retinal thinning,
Retinitis pigmentosa inversa,
Rod-cone dystrophy,
Sensorineural hearing impairment,
Type II diabetes mellitus,
Visual impairment,
Visual loss,
Wide nasal bridge,
Yellow/white lesions of the macula
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Mouse (13 sources):
abnormal Bruch membrane morphology,
abnormal photoreceptor outer segment morphology,
abnormal retina pigment epithelium morphology,
abnormal vitamin A level,
decreased circulating amylase level,
delayed dark adaptation,
enlarged caudal vertebrae,
increased mean corpuscular hemoglobin,
lipofuscinosis,
photoreceptor outer segment degeneration,
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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.