| Monarch Ortholog Phenotypes
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Human (36 sources):
Abnormal electroretinogram,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of retinal pigmentation,
Anteverted nares,
Atypical scarring of skin,
Blindness,
Cataract,
Chorioretinal atrophy,
Conductive hearing impairment,
Constriction of peripheral visual field,
Glaucoma,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Intellectual disability,
Keratoconus,
Macular atrophy,
Macular edema,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Pallor,
Peripapillary chorioretinal atrophy,
Photophobia,
Progressive night blindness,
Rod-cone dystrophy,
Sensorineural hearing impairment,
Type II diabetes mellitus,
Undetectable electroretinogram,
Visual impairment,
Wide nasal bridge
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Mouse (15 sources):
abnormal cone electrophysiology,
abnormal electroretinogram waveform feature,
abnormal optokinetic reflex,
abnormal photoreceptor outer segment morphology,
abnormal retina cone cell morphology,
abnormal retina outer nuclear layer morphology,
abnormal retina photoreceptor morphology,
abnormal retina pigment epithelium morphology,
abnormal rod electrophysiology,
absent retina rod cells,
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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.