| Monarch Ortholog Phenotypes
|
Human (49 sources):
Abnormal electroretinogram,
Abnormality of neuronal migration,
Abnormality of retinal pigmentation,
Abnormality of the optic disc,
Absent retinal pigment epithelium,
Aplasia/Hypoplasia of the cerebellar vermis,
Blindness,
Cataract,
Choriocapillaris atrophy,
Chorioretinal atrophy,
Color vision defect,
Cone/cone-rod dystrophy,
Decreased light- and dark-adapted electroretinogram amplitude,
Drusen,
Dyschromatopsia,
Encephalocele,
Eye poking,
Foveal photoreceptor outer segment loss on macular OCT,
Full-thickness macular hole,
Fundus atrophy,
Global developmental delay,
Growth delay,
Hearing impairment,
Hemeralopia,
Hemiplegia/hemiparesis,
Hepatomegaly,
Hyperautofluorescent macular lesion,
Hyperthreoninemia,
Hyperthreoninuria,
Hypopigmentation of the fundus,
Hypotonia,
Intellectual disability,
Keratoconus,
Macular atrophy,
Nyctalopia,
Nystagmus,
Perifoveal ring of hyperautofluorescence,
Peripheral visual field loss,
Photophobia,
Pigmentary retinopathy,
Progressive night blindness,
Reduced visual acuity,
Retinal pigment epithelial mottling,
Seizure,
Sensorineural hearing impairment,
Severely reduced visual acuity,
Slow decrease in visual acuity,
Visual impairment,
Visual loss
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Mouse (2 sources):
abnormal olfactory bulb periglomerular cell morphology,
abnormal olfactory system physiology
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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.