| Monarch Ortholog Phenotypes
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Human (51 sources):
Abnormal electroretinogram,
Abnormality of fundus pigmentation,
Abnormality of retinal pigmentation,
Abnormal light- and dark-adapted electroretinogram,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Absent foveal reflex,
Anteverted nares,
Attenuation of retinal blood vessels,
Atypical scarring of skin,
Blindness,
Cataract,
Central scotoma,
Color vision defect,
Conductive hearing impairment,
Congenital sensorineural hearing impairment,
Constriction of peripheral visual field,
Cystoid macular edema,
Fundus albipunctatus,
Glaucoma,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Intellectual disability,
Keratoconus,
Lenticonus,
Macular atrophy,
Macular degeneration,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Peripheral visual field loss,
Photophobia,
Pigmentary retinopathy,
Progressive night blindness,
Progressive visual field defects,
Progressive visual loss,
Retinal atrophy,
Retinal dystrophy,
Retinal flecks,
Retinal pigment epithelial mottling,
Rod-cone dystrophy,
Scotoma,
Sensorineural hearing impairment,
Type II diabetes mellitus,
Visual impairment,
Wide nasal bridge,
Yellow/white lesions of the retina
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Mouse (4 sources):
decreased retina photoreceptor cell number,
delayed dark adaptation,
increased lean body mass,
increased prepulse inhibition
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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.