| Monarch Ortholog Phenotypes
|
Human (34 sources):
Abnormal dental enamel morphology,
Abnormal pyramidal sign,
Abnormality of retinal pigmentation,
CNS demyelination,
Corneal erosion,
Dry skin,
Dysarthria,
Enamel hypoplasia,
Erythema,
Generalized hyperpigmentation,
Hyperkeratosis,
Hypotonia,
Ichthyosis,
Inflammatory abnormality of the eye,
Intellectual disability,
Joint stiffness,
Kyphosis,
Macular degeneration,
Microcephaly,
Myopia,
Neurological speech impairment,
Opacification of the corneal epithelium,
Photophobia,
Retinal pigment epithelial atrophy,
Retinal thinning,
Retinopathy,
Scoliosis,
Seizure,
Short stature,
Skeletal dysplasia,
Spastic diplegia,
Spasticity,
Thoracic kyphosis,
Urticaria
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Mouse (15 sources):
abnormal epidermis stratum basale morphology,
abnormal epidermis stratum granulosum morphology,
abnormal epidermis stratum spinosum morphology,
abnormal keratinocyte physiology,
decreased aldehyde dehydrogenase activity,
decreased erythrocyte cell number,
decreased hemoglobin content,
decreased locomotor activity,
decreased mean corpuscular volume,
decreased prepulse inhibition,
[+]
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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.