| Monarch Ortholog Phenotypes
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Human (34 sources):
Abnormal electroretinogram,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of retinal pigmentation,
Adult-onset night blindness,
Anteverted nares,
Attenuation of retinal blood vessels,
Atypical scarring of skin,
Blindness,
Cataract,
Chorioretinal atrophy,
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,
Pigmentary retinopathy,
Progressive night blindness,
Rod-cone dystrophy,
Sensorineural hearing impairment,
Type II diabetes mellitus,
Visual impairment,
Wide nasal bridge
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Mouse (8 sources):
abnormal eye electrophysiology,
abnormal retina blood vessel morphology,
abnormal retina rod cell outer segment morphology,
abnormal rod electrophysiology,
disorganized photoreceptor outer segment,
retina rod cell degeneration,
short photoreceptor outer segment,
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.