| Monarch Ortholog Phenotypes
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Human (35 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,
Congenital stationary night blindness,
Constriction of peripheral visual field,
Decreased light- and dark-adapted electroretinogram amplitude,
Glaucoma,
Hemeralopia,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Intellectual disability,
Keratoconus,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Photophobia,
Pigmentary retinopathy,
Progressive night blindness,
Rod-cone dystrophy,
Sensorineural hearing impairment,
Type II diabetes mellitus,
Visual impairment,
Wide nasal bridge
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Mouse (5 sources):
abnormal retina rod cell outer segment morphology,
abnormal rod electrophysiology,
increased lean body mass,
iris synechia,
vision/eye phenotype
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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.