Human (80 sources):
2-3 toe syndactyly,
Abnormal rib morphology,
Abnormality of epiphysis morphology,
Abnormality of the outer ear,
Anal atresia,
Anal stenosis,
Anotia,
Aplasia/Hypoplasia of the patella,
Aplastic clavicle,
Atresia of the external auditory canal,
Atrial septal defect,
Bifid uvula,
Bowing of the legs,
Breast aplasia,
Camptodactyly of finger,
Chiari type I malformation,
Choanal atresia,
Cleft palate,
Clinodactyly of the 5th finger,
Clitoral hypertrophy,
Clitoral hypoplasia,
Clubbing,
Cognitive impairment,
Complete atrioventricular canal defect,
Craniosynostosis,
Cryptorchidism,
Decreased body weight,
Delayed skeletal maturation,
Duodenal stenosis,
Dyspnea,
Elbow dislocation,
Epispadias,
Failure to thrive,
Feeding difficulties,
Global developmental delay,
Growth delay,
Hearing impairment,
High palate,
High, narrow palate,
Hypoplasia of penis,
Hypoplasia of the maxilla,
Hypoplastic labia majora,
Hypoplastic labia minora,
Hypospadias,
Intellectual disability,
Intrauterine growth retardation,
Low-set ears,
Mandibular aplasia,
Microcephaly,
Micrognathia,
Micropenis,
Microtia,
Microtia, third degree,
Myopia,
Narrow mouth,
Patellar aplasia,
Posteriorly rotated ears,
Preaxial polydactyly,
Progressive microcephaly,
Proptosis,
Pulmonary hypoplasia,
Respiratory distress,
Respiratory insufficiency,
Retrognathia,
Sagittal craniosynostosis,
Scoliosis,
Severe short stature,
Short stature,
Slender long bone,
Specific learning disability,
Strabismus,
Submucous cleft hard palate,
Thick vermilion border,
Thin eyebrow,
Urethral stricture,
Ventricular septal defect,
Vesicoureteral reflux,
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.