| Monarch Ortholog Phenotypes
|
Human (49 sources):
Abnormal helix morphology,
Abnormality of the dentition,
Abnormality of the nail,
Aplasia/Hypoplasia of the eyebrow,
Autoamputation of digits,
Chronic otitis media,
Cognitive impairment,
Congenital ichthyosiform erythroderma,
Congenital nonbullous ichthyosiform erythroderma,
Corneal erosion,
Dehydration,
Desquamation of skin soon after birth,
Dry skin,
Eclabion,
Ectropion,
Edema of the dorsum of feet,
Edema of the dorsum of hands,
Epidermal acanthosis,
Erythema,
Erythroderma,
Everted lower lip vermilion,
Failure to thrive,
Flexion contracture,
Gangrene,
Hearing impairment,
Hyperkeratosis,
Hypohidrosis,
Ichthyosis,
Impaired temperature sensation,
Keratitis,
Lack of skin elasticity,
Limitation of joint mobility,
Localized epidermolytic hyperkeratosis,
Multiple joint contractures,
Nail dysplasia,
Nail dystrophy,
Palmoplantar hyperkeratosis,
Palmoplantar keratoderma,
Palmoplantar scaling skin,
Parakeratosis,
Pruritus,
Recurrent respiratory infections,
Renal insufficiency,
Scaling skin,
Sepsis,
Short stature,
Sparse hair,
Thickened skin,
obsolete Hypotrichosis
[+]
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|
Mouse (6 sources):
abnormal suckling behavior,
aphagia,
decreased body size,
decreased locomotor activity,
impaired skin barrier function,
neonatal lethality, complete penetrance
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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.