| Monarch Ortholog Phenotypes
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Human (50 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,
Attenuation of retinal blood vessels,
Atypical scarring of skin,
Blindness,
Bull's eye maculopathy,
Cataract,
Cerebellar vermis hypoplasia,
Conductive hearing impairment,
Constriction of peripheral visual field,
Decreased light- and dark-adapted electroretinogram amplitude,
Encephalocele,
Eye poking,
Fundus atrophy,
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,
Photophobia,
Pigmentary retinopathy,
Progressive night blindness,
Reduced visual acuity,
Retinitis pigmentosa inversa,
Rod-cone dystrophy,
Seizure,
Sensorineural hearing impairment,
Severely reduced visual acuity,
Type II diabetes mellitus,
Visual impairment,
Wide nasal bridge
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Mouse (19 sources):
abnormal cone electrophysiology,
abnormal eye electrophysiology,
abnormal photoreceptor outer segment morphology,
abnormal retina pigment epithelium morphology,
abnormal retina rod cell outer segment morphology,
abnormal rod electrophysiology,
decreased locomotor activity,
delayed dark adaptation,
disorganized photoreceptor outer segment,
limb grasping,
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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.