| Monarch Ortholog Phenotypes
|
Human (36 sources):
Agenesis of corpus callosum,
Areflexia,
CNS hypomyelination,
Cerebellar atrophy,
Cerebral visual impairment,
Developmental regression,
Dysarthria,
Elevated circulating creatine kinase concentration,
Facial palsy,
Feeding difficulties,
Focal segmental glomerulosclerosis,
Generalized hypotonia,
Gliosis,
Global developmental delay,
Hearing impairment,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Hyporeflexia,
Hypotonia,
Increased CSF lactate,
Increased circulating lactate concentration,
Intellectual disability, mild,
Metabolic alkalosis,
Microcephaly,
Muscle weakness,
Myopathy,
Neurodegeneration,
Neuronal loss in central nervous system,
Nystagmus,
Optic atrophy,
Proximal muscle weakness,
Ptosis,
Seizure,
Skeletal muscle atrophy,
Spasticity,
Status epilepticus
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Mouse (12 sources):
abnormal egg cylinder morphology,
abnormal embryo size,
absent head fold,
absent primitive node,
decreased embryo size,
decreased exploration in new environment,
embryonic growth arrest,
embryonic lethality prior to organogenesis,
embryonic lethality, complete penetrance,
failure of primitive streak formation,
[+]
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View all ortholog results at Monarch
|
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.