| Monarch Ortholog Phenotypes
|
Human (22 sources):
Abnormal cerebral white matter morphology,
Areflexia,
Ataxia,
Athetosis,
Cerebellar atrophy,
Cerebral cortical atrophy,
Decreased body weight,
Demyelinating peripheral neuropathy,
Failure to thrive,
Generalized hypotonia,
Hypoplasia of the corpus callosum,
Hyporeflexia,
Hypotonia,
Intellectual disability, severe,
Nystagmus,
Optic atrophy,
Progressive microcephaly,
Retinal dystrophy,
Seizure,
Sensorineural hearing impairment,
Severe global developmental delay,
Strabismus
[+]
|
|
Mouse (2 sources):
decreased IgG1 level,
decreased IgG3 level
|
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.