| Monarch Ortholog Phenotypes
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Human (31 sources):
Abnormal cortical bone morphology,
Agenesis of corpus callosum,
Attention deficit hyperactivity disorder,
Cerebellar hypoplasia,
Cortical dysplasia,
Delayed speech and language development,
Global developmental delay,
Gray matter heterotopia,
Growth delay,
Hearing impairment,
Highly arched eyebrow,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Hypoplasia of the frontal lobes,
Intellectual disability,
Intellectual disability, severe,
Microcephaly,
Motor delay,
Narrow forehead,
Pachygyria,
Proptosis,
Seizure,
Short stature,
Simplified gyral pattern,
Sloping forehead,
Small cerebral cortex,
Thin upper lip vermilion,
Unilateral renal agenesis,
Upslanted palpebral fissure,
Ventriculomegaly,
Vesicoureteral reflux
[+]
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Mouse (21 sources):
abnormal Sertoli cell morphology,
abnormal adipose tissue amount,
abnormal astrocyte morphology,
abnormal barrel cortex morphology,
abnormal brain development,
abnormal cerebral hemisphere morphology,
abnormal neocortex morphology,
asthenozoospermia,
decreased brain size,
decreased brain weight,
decreased lean body mass,
decreased neuronal precursor cell number,
decreased ovary weight,
decreased testis weight,
enlarged lateral ventricles,
increased total body fat amount,
reduced female fertility,
reduced male fertility,
seminiferous tubule degeneration,
small sperm head,
thin cerebral cortex
[+]
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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.