| Monarch Ortholog Phenotypes
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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,
Decreased response to growth hormone stimulation test,
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,
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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Mouse (6 sources):
abnormal embryo size,
abnormal hematocrit,
decreased startle reflex,
embryonic lethality prior to organogenesis,
prenatal lethality prior to heart atrial septation,
preweaning lethality, complete penetrance
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View all ortholog results at Monarch
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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.