| Monarch Ortholog Phenotypes
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Human (44 sources):
Abnormal electroretinogram,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of retinal pigmentation,
Abnormality of the orbital region,
Abnormality of vision,
Anteverted nares,
Atypical scarring of skin,
Blindness,
Cataract,
Central scotoma,
Choroideremia,
Color vision defect,
Conductive hearing impairment,
Constriction of peripheral visual field,
Glaucoma,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Intellectual disability,
Iris hypopigmentation,
Keratoconus,
Macular dystrophy,
Moderately reduced visual acuity,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Photophobia,
Pigmentary retinopathy,
Posterior subcapsular cataract,
Progressive night blindness,
Reduced visual acuity,
Retinal nonattachment,
Rod-cone dystrophy,
Sensorineural hearing impairment,
Type II diabetes mellitus,
Visual field defect,
Visual impairment,
Vitelliform-like macular lesions,
Wide nasal bridge
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Mouse (12 sources):
abnormal extracellular matrix morphology,
abnormal retina cone cell morphology,
abnormal retina rod cell inner segment morphology,
abnormal retina rod cell morphology,
decreased a-wave amplitude,
decreased b-wave amplitude,
decreased retina cone cell number,
impaired autophagy,
increased endoplasmic reticulum stress,
retina cone cell degeneration,
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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.