Human (63 sources):
Abnormal bleeding,
Abnormal cardiac septum morphology,
Abnormal dermatoglyphics,
Abnormal hair quantity,
Abnormal platelet function,
Abnormal pulmonary valve morphology,
Abnormality of cardiovascular system morphology,
Abnormality of coagulation,
Abnormality of the genital system,
Abnormality of the lymphatic system,
Abnormality of the spleen,
Aplasia of the semicircular canal,
Aplasia/Hypoplasia of the abdominal wall musculature,
Arrhythmia,
Brachydactyly,
Clinodactyly of the 5th finger,
Coarctation of aorta,
Coarse hair,
Cryptorchidism,
Curly hair,
Cystic hygroma,
Delayed skeletal maturation,
Downslanted palpebral fissures,
Dysarthria,
Enlarged thorax,
Feeding difficulties in infancy,
Global developmental delay,
Hepatomegaly,
High forehead,
High palate,
Hypertelorism,
Hypogonadotropic hypogonadism,
Hypotonia,
Joint hyperflexibility,
Low posterior hairline,
Low-set, posteriorly rotated ears,
Lymphedema,
Melanocytic nevus,
Micrognathia,
Midface retrusion,
Muscle weakness,
Neurological speech impairment,
Nystagmus,
Pectus carinatum,
Pectus excavatum,
Proptosis,
Ptosis,
Pulmonary artery stenosis,
Pulmonic stenosis,
Radioulnar synostosis,
Scoliosis,
Sensorineural hearing impairment,
Short neck,
Short stature,
Sparse and thin eyebrow,
Strabismus,
Thick lower lip vermilion,
Thickened helices,
Thickened nuchal skin fold,
Triangular face,
Webbed neck,
Wide intermamillary distance,
obsolete Hyperkeratosis pilaris
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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.