| Monarch Ortholog Phenotypes
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Human (39 sources):
Abnormal cardiovascular system morphology,
Abnormal dental morphology,
Aortic valve stenosis,
Blindness,
Brachycephaly,
Brachydactyly,
Broad metacarpals,
Broad metatarsal,
Broad palm,
Broad phalanges of the hand,
Broad ribs,
Broad skull,
Cataract,
Depressed nasal bridge,
Ectopia lentis,
Glaucoma,
High myopia,
Hypoplasia of the maxilla,
Intellectual disability, mild,
Joint stiffness,
Limitation of joint mobility,
Lumbar hyperlordosis,
Microspherophakia,
Mitral regurgitation,
Narrow palate,
Patent ductus arteriosus,
Proportionate short stature,
Pulmonic stenosis,
Scoliosis,
Shallow anterior chamber,
Shallow orbits,
Short stature,
Short thumb,
Spinal canal stenosis,
Thickened skin,
Thin bony cortex,
Tooth malposition,
Ventricular septal defect,
Visual loss
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Mouse (13 sources):
abnormal cilary zonule morphology,
abnormal ciliary process morphology,
abnormal epidermal-dermal junction morphology,
abnormal long bone epiphyseal plate morphology,
abnormal long bone epiphyseal plate proliferative zone,
abnormal skeletal muscle morphology,
decreased body length,
decreased body size,
decreased skeletal muscle fiber size,
increased skeletal muscle fiber number,
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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.