Human (55 sources):
Abnormal electroretinogram,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of neuronal migration,
Abnormality of retinal pigmentation,
Abnormality of the optic disc,
Anteverted nares,
Aplasia/Hypoplasia of the cerebellar vermis,
Atypical scarring of skin,
Blindness,
Bone spicule pigmentation of the retina,
Cataract,
Color vision defect,
Conductive hearing impairment,
Congenital nystagmus,
Constriction of peripheral visual field,
Encephalocele,
Glaucoma,
Global developmental delay,
Hearing impairment,
Hemiplegia/hemiparesis,
Hyperinsulinemia,
Hypermetropia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Hypotonia,
Impaired smooth pursuit,
Intellectual disability,
Keratoconus,
Myopia,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Optic disc pallor,
Photophobia,
Pigmentary retinopathy,
Posterior subcapsular cataract,
Progressive night blindness,
Reduced visual acuity,
Retinal arteriolar constriction,
Retinal degeneration,
Retinopathy,
Rod-cone dystrophy,
Seizure,
Sensorineural hearing impairment,
Severely reduced visual acuity,
Slow pupillary light response,
Type II diabetes mellitus,
Undetectable electroretinogram,
Visual impairment,
Wide nasal bridge
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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.