Human (66 sources):
Abnormal joint morphology,
Abnormality of primary molar morphology,
Abnormality of subcutaneous fat tissue,
Aphasia,
Astigmatism,
Avascular necrosis of the capital femoral epiphysis,
Blepharochalasis,
Blue sclerae,
Bruising susceptibility,
Coxa valga,
Coxa vara,
Delayed closure of the anterior fontanelle,
Depressed nasal bridge,
Disproportionate short-limb short stature,
Downslanted palpebral fissures,
Dysphasia,
Echolalia,
Epicanthus,
Everted lower lip vermilion,
Excessive wrinkled skin,
Femoral hernia,
Fragile skin,
Frontal open bite,
Gastroesophageal reflux,
Gingival bleeding,
Gingival hyperkeratosis,
Gingival overgrowth,
Hernia,
Hiatus hernia,
Hip dislocation,
Hip dysplasia,
Hirsutism,
Hyperextensible skin,
Hypodontia,
Hypotonia,
Joint dislocation,
Joint stiffness,
Micrognathia,
Micromelia,
Motor delay,
Mutism,
Myopia,
Osteomalacia,
Osteopenia,
Osteoporosis,
Premature birth,
Premature rupture of membranes,
Prolonged bleeding time,
Recurrent mandibular subluxations,
Redundant skin,
Retrognathia,
Rickets,
Scarring,
Scoliosis,
Severe short stature,
Short phalanx of finger,
Short stature,
Short toe,
Soft, doughy skin,
Spontaneous neonatal pneumothorax,
Thick vermilion border,
Thin skin,
Umbilical hernia,
Wide anterior fontanel,
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.