Human (121 sources):
Abnormality of metabolism/homeostasis,
Abnormality of the scrotum,
Abnormality of the upper urinary tract,
Abnormality of tibia morphology,
Achalasia,
Agenesis of corpus callosum,
Anteverted nares,
Aortic valve stenosis,
Aphasia,
Aplasia/Hypoplasia of the breasts,
Bicuspid aortic valve,
Blindness,
Cataract,
Cerebral cortical atrophy,
Cerebral cortical hemiatrophy,
Chorioretinal coloboma,
Cleft palate,
Cleft upper lip,
Coarse facial features,
Cryptorchidism,
Delayed cranial suture closure,
Depressed nasal tip,
Downslanted palpebral fissures,
Duplication of phalanx of hallux,
Duplication of thumb phalanx,
Dysphagia,
Dysphasia,
Echolalia,
Epicanthus,
Euryblepharon,
Externally rotated hips,
Failure to thrive,
Feeding difficulties,
Full cheeks,
Generalized dystonia,
Generalized hypotonia,
Global developmental delay,
Growth delay,
Hamartoma,
Heterochromia iridis,
High forehead,
Highly arched eyebrow,
Hydronephrosis,
Hydroureter,
Hypermelanotic macule,
Hypertelorism,
Hypoplastic labia minora,
Hypoplastic scapulae,
Immunodeficiency,
Intellectual disability,
Intellectual disability, mild,
Iris coloboma,
Joint stiffness,
Kyphoscoliosis,
Kyphosis,
Large fontanelles,
Lipoatrophy,
Lissencephaly,
Long nose,
Long palpebral fissure,
Long philtrum,
Low posterior hairline,
Low-set ears,
Lower limb asymmetry,
Macroglossia,
Macrogyria,
Mental deterioration,
Microcephaly,
Microcornea,
Micrognathia,
Micromelia,
Micropenis,
Microphthalmia,
Midface retrusion,
Mild global developmental delay,
Muscular hypotonia,
Mutism,
Nevus,
Optic nerve coloboma,
Oral cleft,
Osteochondrosis,
Overfolded helix,
Pachygyria,
Palpebral edema,
Patent ductus arteriosus,
Pectus carinatum,
Pectus excavatum,
Pointed chin,
Polymicrogyria,
Prominent metopic ridge,
Prominent nose,
Ptosis,
Retinoschisis,
Retrognathia,
Rib fusion,
Scoliosis,
Seizure,
Sensorineural hearing impairment,
Short columella,
Short neck,
Short nose,
Short stature,
Shoulder girdle muscle atrophy,
Skeletal dysplasia,
Small for gestational age,
Specific learning disability,
Spina bifida occulta,
Subcortical cerebral atrophy,
Supernumerary nipple,
Supernumerary ribs,
Telecanthus,
Thin upper lip vermilion,
Thin vermilion border,
Transient ischemic attack,
Trigonocephaly,
Upper limb asymmetry,
Ventriculomegaly,
Webbed neck,
Wide mouth,
Wide nasal bridge,
Wide nose
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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.