Human (62 sources):
Abnormal dental enamel morphology,
Abnormal earlobe morphology,
Abnormal eyelash morphology,
Abnormality of neuronal migration,
Abnormality of retinal pigmentation,
Abnormality of skin pigmentation,
Absent earlobe,
Anteverted nares,
Aplasia/Hypoplasia of the cerebellum,
Biparietal narrowing,
Cachexia,
Cataract,
Cerebellar atrophy,
Cerebellar hypoplasia,
Cerebral atrophy,
Cerebral cortical atrophy,
Chorioretinal dysplasia,
Clinodactyly of the 5th finger,
Cognitive impairment,
Cone-shaped epiphysis,
Convex nasal ridge,
Craniosynostosis,
Delayed skeletal maturation,
Downslanted palpebral fissures,
Glaucoma,
Global developmental delay,
Hip dysplasia,
Intellectual disability,
Intrauterine growth retardation,
Macular atrophy,
Microcephaly,
Microcornea,
Micrognathia,
Microphthalmia,
Mild global developmental delay,
Narrow face,
Nystagmus,
Optic atrophy,
Optic disc pallor,
Pachygyria,
Pointed chin,
Prematurely aged appearance,
Prominent nose,
Proptosis,
Protruding ear,
Retinal detachment,
Retinal dystrophy,
Retinal fold,
Retinopathy,
Sandal gap,
Scoliosis,
Seizure,
Short stature,
Simplified gyral pattern,
Sloping forehead,
Sparse scalp hair,
Spasticity,
Strabismus,
Tooth agenesis,
Visual impairment,
Wide nasal bridge,
obsolete Joint hyperflexibility
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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.