| 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,
Anteverted nares,
Attenuation of retinal blood vessels,
Atypical scarring of skin,
Blindness,
Cataract,
Conductive hearing impairment,
Constriction of peripheral visual field,
Glaucoma,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Intellectual disability,
Keratoconus,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Optic disc pallor,
Peripheral visual field loss,
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 (11 sources):
abnormal electroretinogram waveform feature,
abnormal eye electrophysiology,
absent photoreceptor outer segment,
brain vacuoles,
decreased retina photoreceptor cell number,
increased vertical activity,
retina photoreceptor degeneration,
retina spots,
short photoreceptor inner segment,
short photoreceptor outer segment,
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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.