Human (61 sources):
Abnormal rib morphology,
Abnormality of the inner ear,
Abnormality of the middle ear,
Abnormality of the pharynx,
Agenesis of corpus callosum,
Anophthalmia,
Anotia,
Aplasia/Hypoplasia of the thumb,
Atresia of the external auditory canal,
Autism,
Blepharophimosis,
Block vertebrae,
Branchial anomaly,
Cerebral cortical atrophy,
Chiari malformation,
Cleft palate,
Cleft upper lip,
Coarctation of aorta,
Conductive hearing impairment,
Ectopic kidney,
Facial asymmetry,
Feeding difficulties in infancy,
Hearing impairment,
Hemifacial hypoplasia,
Hemivertebrae,
Hydrocephalus,
Hypoplasia of facial musculature,
Hypoplasia of the maxilla,
Hypotonia,
Intellectual disability,
Laryngomalacia,
Limbal dermoid,
Low-set, posteriorly rotated ears,
Malar flattening,
Micrognathia,
Microphthalmia,
Microtia,
Multicystic kidney dysplasia,
Neurological speech impairment,
Non-midline cleft of the upper lip,
Occipital encephalocele,
Patent ductus arteriosus,
Preauricular skin tag,
Pulmonary hypoplasia,
Renal agenesis,
Scoliosis,
Sensorineural hearing impairment,
Short stature,
Strabismus,
Tetralogy of Fallot,
Tracheoesophageal fistula,
Tracheomalacia,
Unilateral external ear deformity,
Upper eyelid coloboma,
Ureteropelvic junction obstruction,
Ventricular septal defect,
Ventriculomegaly,
Vertebral hypoplasia,
Vesicoureteral reflux,
Visual impairment,
Wide mouth
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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.