Human (52 sources):
Abnormal aortic valve morphology,
Abnormal hair morphology,
Abnormality of the metaphysis,
Anemia,
Anteverted nares,
Bifid uvula,
Broad distal phalanx of finger,
Broad forehead,
Cataract,
Cleft palate,
Clinodactyly of the 5th finger,
Conductive hearing impairment,
Delayed eruption of teeth,
Dental crowding,
Depressed nasal bridge,
Downslanted palpebral fissures,
Elliptocytosis,
Esotropia,
Flat face,
Generalized hypotonia,
Glomerulopathy,
Hearing impairment,
Hypercalciuria,
Hypotonia,
Intellectual disability,
Intellectual disability, severe,
Joint hypermobility,
Large forehead,
Malar flattening,
Micrognathia,
Microscopic hematuria,
Midface retrusion,
Mixed hearing impairment,
Myopia,
Narrow mouth,
Nephrocalcinosis,
Patent ductus arteriosus,
Patent foramen ovale,
Pes planus,
Proteinuria,
Renal dysplasia,
Renal insufficiency,
Sensorineural hearing impairment,
Short neck,
Short stature,
Strabismus,
Supernumerary tooth,
Talipes equinovarus,
Tapered finger,
Thick vermilion border,
Thin upper lip vermilion,
Thin vermilion border
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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.