| Monarch Ortholog Phenotypes
|
Human (39 sources):
Absent speech,
Arachnodactyly,
Cerebellar atrophy,
Cerebral cortical atrophy,
Downslanted palpebral fissures,
Frontal bossing,
Gait ataxia,
Generalized hypotonia,
Global developmental delay,
High palate,
Hydrocephalus,
Hyperlordosis,
Hypertelorism,
Intellectual disability,
Kyphosis,
Large hands,
Long face,
Long foot,
Long neck,
Low-set ears,
Macrocephaly,
Macrotia,
Malar flattening,
Mandibular prognathia,
Megalencephaly,
Pes planus,
Posteriorly rotated ears,
Prominent forehead,
Prominent nasal bridge,
Proptosis,
Scoliosis,
Seizure,
Sparse eyebrow,
Tall stature,
Thick corpus callosum,
Triangular face,
Upslanted palpebral fissure,
Ventriculomegaly,
obsolete Joint laxity
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|
Mouse (18 sources):
Purkinje cell degeneration,
abnormal Purkinje cell morphology,
abnormal adipose tissue amount,
abnormal bone mineralization,
abnormal cerebellar Purkinje cell layer,
abnormal lean body mass,
decreased Purkinje cell number,
decreased blood urea nitrogen level,
decreased bone mineral content,
decreased circulating glucose level,
[+]
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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.