| Monarch Ortholog Phenotypes
|
Human (37 sources):
Abnormal facial shape,
Abnormality of the dentition,
Agenesis of corpus callosum,
Cataract,
Cerebellar atrophy,
Choreoathetosis,
Depressed nasal bridge,
Distal muscle weakness,
Dysmetria,
Dystonia,
Failure to thrive,
Gait ataxia,
Generalized hypotonia,
Global developmental delay,
Hand clenching,
Hyperreflexia,
Inability to walk,
Intellectual disability,
Joint hypermobility,
Joint stiffness,
Kyphosis,
Low-set ears,
Microcephaly,
Myopia,
Narrow forehead,
Optic atrophy,
Protruding ear,
Scoliosis,
Seizure,
Short nose,
Sparse eyebrow,
Sparse eyelashes,
Spasticity,
Talipes equinovarus,
Tremor,
Triangular mouth,
Visual impairment
[+]
|
|
Mouse (4 sources):
decreased fasting circulating glucose level,
enlarged lymph nodes,
increased exploration in new environment,
preweaning lethality, incomplete penetrance
|
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.