Human (49 sources):
Abnormal cornea morphology,
Abnormal epiphysis morphology,
Abnormality of hair pigmentation,
Abnormality of the dentition,
Arachnodactyly,
Atypical scarring of skin,
Blue sclerae,
Bruising susceptibility,
Camptodactyly,
Cleft palate,
Conductive hearing impairment,
Congenital hip dislocation,
Corneal dystrophy,
Corneal erosion,
Corneal scarring,
Decreased corneal thickness,
Dentinogenesis imperfecta,
Disproportionate tall stature,
Epicanthus,
Gait disturbance,
Glaucoma,
Hallux valgus,
Hearing impairment,
Hernia,
High myopia,
Hip dysplasia,
Hyperextensible skin,
Increased susceptibility to fractures,
Keratoconus,
Keratoglobus,
Macrocephaly,
Mitral valve prolapse,
Molluscoid pseudotumors,
Myalgia,
Myopia,
Neonatal hypotonia,
obsolete Joint hyperflexibility,
obsolete Joint laxity,
Osteoporosis,
Palmoplantar cutis laxa,
Pes planus,
Pulmonic stenosis,
Red hair,
Retinal detachment,
Scoliosis,
Sensorineural hearing impairment,
Soft skin,
Spondylolisthesis,
Visual loss
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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.