| Monarch Ortholog Phenotypes
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Human (51 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,
Bull's eye maculopathy,
Cataract,
Conductive hearing impairment,
Congenital blindness,
Constriction of peripheral visual field,
Decreased light- and dark-adapted electroretinogram amplitude,
Encephalocele,
Falls,
Glaucoma,
Global developmental delay,
Hearing impairment,
Hemiplegia/hemiparesis,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Hypotonia,
Intellectual disability,
Keratoconus,
Macular degeneration,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Optic disc pallor,
Pallor,
Photophobia,
Progressive night blindness,
Reduced visual acuity,
Retinal dystrophy,
Retinitis pigmentosa inversa,
Rod-cone dystrophy,
Seizure,
Sensorineural hearing impairment,
Severely reduced visual acuity,
Type II diabetes mellitus,
Undetectable electroretinogram,
Visual impairment,
Wide nasal bridge
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Mouse (14 sources):
abnormal eye electrophysiology,
abnormal retina cone cell outer segment morphology,
abnormal retina photoreceptor morphology,
abnormal retinol level,
abnormal vitamin A level,
dilated seminiferous tubules,
preweaning lethality, incomplete penetrance,
retina cone cell degeneration,
retina photoreceptor degeneration,
retina rod cell degeneration,
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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.