Human (56 sources):
Abnormal vertebral morphology,
Achalasia,
Bilateral sensorineural hearing impairment,
Brachydactyly,
Cataract,
Central adrenal insufficiency,
Cerebral cortical atrophy,
Cervical spinal canal stenosis,
Congenital hip dislocation,
Deeply set eye,
Depressed nasal bridge,
Developmental cataract,
Distal sensory impairment,
Esotropia,
Fasting hypoglycemia,
Flat forehead,
Flexion contracture,
Generalized hypotonia,
Genu valgum,
Global developmental delay,
Growth hormone deficiency,
Hip dislocation,
Horizontal nystagmus,
Hyperlordosis,
Hyporeflexia,
Hypsarrhythmia,
Keratoconjunctivitis sicca,
Long philtrum,
Mandibular prognathia,
Metaphyseal irregularity,
Midface retrusion,
Motor delay,
Narrow mouth,
Nystagmus,
Osteopenia,
Periarticular subcutaneous nodules,
Peripheral neuropathy,
Pes planus,
Prelingual sensorineural hearing impairment,
Progressive sensorineural hearing impairment,
Prominent forehead,
Ptosis,
Scoliosis,
Sensorimotor neuropathy,
Sensorineural hearing impairment,
Sensory neuropathy,
Short stature,
Skeletal dysplasia,
Spinal canal stenosis,
Spondyloepimetaphyseal dysplasia,
Spondyloepiphyseal dysplasia,
Strabismus,
Tapered finger,
Thick eyebrow,
Thin vermilion border,
Thoracic kyphoscoliosis
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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.