Human (56 sources):
Abnormal bleeding,
Abnormal hip bone morphology,
Abnormality of metabolism/homeostasis,
Aortic dissection,
Arachnodactyly,
Arterial dissection,
Arterial rupture,
Atypical scarring of skin,
Bladder diverticulum,
Blindness,
Blue sclerae,
Bruising susceptibility,
Congestive heart failure,
Corneal dystrophy,
Decreased fetal movement,
Dental crowding,
Depressed nasal bridge,
Disproportionate tall stature,
Epicanthus,
Excessive wrinkled skin,
Gait disturbance,
Gastrointestinal hemorrhage,
Generalized hypotonia,
Generalized joint hypermobility,
Glaucoma,
Hyperextensible skin,
Hypotonia,
Joint dislocation,
Keratoconus,
Kyphosis,
Microcornea,
Mitral valve prolapse,
Molluscoid pseudotumors,
Motor delay,
Myopia,
Neonatal hypotonia,
Osteoporosis,
Palmoplantar cutis laxa,
Pes planus,
Premature rupture of membranes,
Progressive congenital scoliosis,
Recurrent pneumonia,
Respiratory insufficiency,
Retinal detachment,
Retinopathy,
Scoliosis,
Soft skin,
Spontaneous rupture of the globe,
Subcutaneous hemorrhage,
Talipes equinovarus,
Tall stature,
Thin skin,
Visual impairment,
obsolete Decreased pulmonary function,
obsolete Joint hyperflexibility,
obsolete Joint laxity
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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.