| Monarch Ortholog Phenotypes
|
Human (52 sources):
Abnormal choroid morphology,
Abnormal electroretinogram,
Abnormal foveal morphology,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of macular pigmentation,
Abnormality of retinal pigmentation,
Abnormality of visual evoked potentials,
Anteverted nares,
Aplasia/Hypoplasia of the macula,
Atypical scarring of skin,
Blindness,
Cataract,
Central scotoma,
Color vision defect,
Conductive hearing impairment,
Cone/cone-rod dystrophy,
Constriction of peripheral visual field,
Dyschromatopsia,
Glaucoma,
Granular macular appearance,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Intellectual disability,
Keratoconus,
Macular degeneration,
Macular dystrophy,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Paroxysmal involuntary eye movements,
Perifoveal ring of hyperautofluorescence,
Peripheral visual field loss,
Photophobia,
Progressive night blindness,
Reduced visual acuity,
Retinal flecks,
Retinal pigment epithelial atrophy,
Retinal pigment epithelial mottling,
Retinal thinning,
Rod-cone dystrophy,
Sensorineural hearing impairment,
Type II diabetes mellitus,
Undetectable electroretinogram,
Visual impairment,
Wide nasal bridge,
Yellow/white lesions of the macula
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Mouse (27 sources):
abnormal cone electrophysiology,
abnormal electroretinogram waveform feature,
abnormal eye pigmentation,
abnormal retina blood vessel morphology,
abnormal retina cone cell morphology,
abnormal retina cone cell outer segment morphology,
abnormal retina pigment epithelium morphology,
abnormal retina rod cell morphology,
abnormal retina rod cell outer segment morphology,
abnormal retina vasculature morphology,
abnormal rod electrophysiology,
decreased a-wave amplitude,
decreased b-wave amplitude,
decreased photoreceptor outer segment number,
decreased retina inner nuclear layer thickness,
decreased retina photoreceptor cell number,
disorganized photoreceptor outer segment,
increased brain apoptosis,
no abnormal phenotype detected,
photoreceptor inner segment degeneration,
photoreceptor outer segment degeneration,
retina outer nuclear layer degeneration,
retina photoreceptor degeneration,
short photoreceptor outer segment,
thin retina inner plexiform layer,
thin retina outer nuclear layer,
thin retina outer plexiform layer
[+]
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View all ortholog results at Monarch
|
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.