| Monarch Ortholog Phenotypes
|
Human (44 sources):
Abnormal antihelix morphology,
Abnormal eyebrow morphology,
Abnormal intervertebral disk morphology,
Amblyopia,
Aplasia/Hypoplasia of the lens,
Arachnodactyly,
Atrial septal defect,
Cataract,
Decreased body weight,
Disproportionate short-trunk short stature,
Facial hypotonia,
Hyperextensible skin,
Hypertelorism,
Intellectual disability,
Iris hypopigmentation,
Long philtrum,
Long toe,
Low posterior hairline,
Low-set ears,
Microphthalmia,
Mitral valve prolapse,
Muscle weakness,
Myopia,
Nystagmus,
Osteopenia,
Osteoporosis,
Pes planus,
Platyspondyly,
Posteriorly rotated ears,
Preauricular pit,
Retinal detachment,
Sensorineural hearing impairment,
Shield chest,
Short neck,
Short stature,
Thickened helices,
Thin vermilion border,
Thoracic kyphosis,
Unilateral cryptorchidism,
Ventricular septal defect,
Vertebral compression fracture,
Visual loss,
Webbed neck,
obsolete Joint hyperflexibility
[+]
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|
Mouse (4 sources):
dilated renal tubules,
increased kidney weight,
increased liver weight,
liver hyperplasia
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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.