Human (75 sources):
Abnormal electroretinogram,
Abnormal light- and dark-adapted electroretinogram,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of retinal pigmentation,
Abnormality of the orbital region,
Abnormality of vision,
Absent foveal reflex,
Absent retinal pigment epithelium,
Adult-onset night blindness,
Anteverted nares,
Attenuation of retinal blood vessels,
Atypical scarring of skin,
Blindness,
Cataract,
Central scotoma,
Choriocapillaris atrophy,
Chorioretinal atrophy,
Choroidal neovascularization,
Choroideremia,
Color vision defect,
Conductive hearing impairment,
Congenital sensorineural hearing impairment,
Constriction of peripheral visual field,
Cystoid macular edema,
Dark choroid,
Drusen,
Dyschromatopsia,
Foveal photoreceptor outer segment loss on macular OCT,
Full-thickness macular hole,
Fundus albipunctatus,
Glaucoma,
Hyperautofluorescent macular lesion,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypopigmentation of the fundus,
Hypoplasia of penis,
Intellectual disability,
Iris hypopigmentation,
Keratoconus,
Lenticonus,
Macular atrophy,
Macular dystrophy,
Metamorphopsia,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Pattern dystrophy of the retina,
Perifoveal ring of hyperautofluorescence,
Peripheral visual field loss,
Photophobia,
Pigmentary retinopathy,
Progressive night blindness,
Progressive visual field defects,
Progressive visual loss,
Reduced visual acuity,
Reticular retinal dystrophy,
Retinal atrophy,
Retinal flecks,
Retinal nonattachment,
Retinal pigment epithelial mottling,
Rod-cone dystrophy,
Sensorineural hearing impairment,
Slow decrease in visual acuity,
Type II diabetes mellitus,
Visual field defect,
Visual impairment,
Visual loss,
Vitelliform-like macular lesions,
Wide nasal bridge,
Yellow/white lesions of the retina
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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.