Human (81 sources):
Abnormal cerebral vascular morphology,
Abnormal clavicle morphology,
Abnormal form of the vertebral bodies,
Abnormal palate morphology,
Abnormal thorax morphology,
Abnormality of metabolism/homeostasis,
Abnormality of pelvic girdle bone morphology,
Abnormality of the dentition,
Abnormality of the metaphysis,
Amenorrhea,
Anteverted nares,
Asymmetry of the thorax,
Atherosclerosis,
Bell-shaped thorax,
Breast hypoplasia,
Broad forehead,
Choanal atresia,
Decreased skull ossification,
Delayed cranial suture closure,
Delayed eruption of teeth,
Delayed skeletal maturation,
Depressed nasal bridge,
Dysmenorrhea,
EEG abnormality,
Early balding,
Epidermoid cyst,
Eruption failure,
Everted lower lip vermilion,
Frontal bossing,
Glaucoma,
Growth delay,
Hearing impairment,
Hemangioma,
Hepatomegaly,
High forehead,
High, narrow palate,
Hyperextensible skin,
Hypertelorism,
Hypogonadism,
Hypopigmented skin patches,
Hypoplastic nipples,
Increased intracranial pressure,
Intellectual disability,
Joint hypermobility,
Keratoconus,
Long philtrum,
Low-set ears,
Mandibular prognathia,
Micrognathia,
Midface retrusion,
Motor delay,
Myopia,
Nail dysplasia,
Nephrolithiasis,
Nystagmus,
Oligospermia,
Optic atrophy,
Palpebral edema,
Photophobia,
Prematurely aged appearance,
Prominent scalp veins,
Protruding ear,
Redundant skin,
Scoliosis,
Seizure,
Short stature,
Skin tags,
Sparse eyebrow,
Sparse eyelashes,
Strabismus,
Thick lower lip vermilion,
Thick nasal alae,
Tubulointerstitial fibrosis,
Umbilical hernia,
Underdeveloped supraorbital ridges,
Ventriculomegaly,
Visual impairment,
Wide anterior fontanel,
obsolete Hypotrichosis,
obsolete Joint hyperflexibility,
obsolete Sparse and thin eyebrow
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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.