| Monarch Ortholog Phenotypes
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Human (37 sources):
Anteverted nares,
Bilateral sensorineural hearing impairment,
Cerebellar atrophy,
Cerebellar hypoplasia,
Cerebral atrophy,
Cerebral cortical atrophy,
Cognitive impairment,
Decreased response to growth hormone stimulation test,
Depressed nasal bridge,
Dysarthria,
Dysmetria,
Dystonia,
Feeding difficulties,
Gait ataxia,
Generalized hypotonia,
Global developmental delay,
Hearing impairment,
Horizontal nystagmus,
Hyperreflexia,
Hypertelorism,
Hypotonia,
Intellectual disability, mild,
Leukoencephalopathy,
Long philtrum,
Low-set ears,
Mild hearing impairment,
Pectus carinatum,
Progressive cerebellar ataxia,
Scoliosis,
Short nose,
Short stature,
Spastic ataxia,
Spastic dysarthria,
Spasticity,
Urinary urgency,
Vascular dilatation,
Wide nasal bridge
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Mouse (15 sources):
abnormal egg cylinder morphology,
abnormal embryo size,
abnormal embryo turning,
abnormal fasting circulating glucose level,
absent head fold,
absent primitive node,
decreased embryo size,
decreased fasting circulating glucose level,
embryonic growth arrest,
embryonic lethality prior to organogenesis,
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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.