| Monarch Ortholog Phenotypes
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Human (47 sources):
Abnormal blood zinc concentration,
Abnormality of the liver,
Astigmatism,
Cerebellar atrophy,
Cerebral atrophy,
Cerebral cortical atrophy,
Craniosynostosis,
Cutaneous syndactyly of toes,
Decreased activity of mitochondrial complex II,
Decreased activity of mitochondrial complex IV,
Decreased activity of the pyruvate dehydrogenase complex,
Decreased mitochondrial complex III activity in liver tissue,
Disproportionate short-limb short stature,
Dystonia,
Eczematoid dermatitis,
Elbow flexion contracture,
Failure to thrive in infancy,
Flat face,
Generalized hypotonia,
Global developmental delay,
Hearing impairment,
Hypermetropia,
Hyperreflexia,
Hypomanganesemia,
Hypotonia,
Hypsarrhythmia,
Inability to walk,
Increased CSF lactate,
Intellectual disability,
Intellectual disability, profound,
Joint hypermobility,
Knee flexion contracture,
Low-set ears,
Nystagmus,
Osteopenia,
Poor head control,
Poor speech,
Profound global developmental delay,
Recurrent infections,
Seizure,
Severe muscular hypotonia,
Short stature,
Strabismus,
Sudden episodic apnea,
Type II transferrin isoform profile,
Ventriculomegaly,
Visual fixation instability
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Mouse (5 sources):
abnormal zinc level,
increased fetal cardiomyocyte proliferation,
lethality throughout fetal growth and development, complete penetrance,
preweaning lethality, complete penetrance,
thin myocardium compact layer
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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.