| Monarch Ortholog Phenotypes
|
Human (35 sources):
Abnormal pyramidal sign,
Abnormality of neuronal migration,
Abnormality of the liver,
Athetosis,
Basal ganglia calcification,
Bradykinesia,
Calcification of the small brain vessels,
Cerebellar dentate nucleus calcification,
Cerebral calcification,
Chorea,
Corneal opacity,
Depression,
Dysarthria,
Dysdiadochokinesis,
Dystonia,
Gait disturbance,
Hepatomegaly,
Hyperreflexia,
Intrauterine growth retardation,
Limb dysmetria,
Mask-like facies,
Memory impairment,
Mental deterioration,
Microcephaly,
Micrographia,
Parkinsonism,
Postural instability,
Psychosis,
Rigidity,
Seizure,
Subcutaneous hemorrhage,
Thrombocytopenia,
Tremor,
Urinary incontinence,
Ventriculomegaly
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|
Mouse (30 sources):
abnormal atrioventricular cushion morphology,
abnormal basal ganglion morphology,
abnormal bone mineralization,
abnormal cerebral cortex morphology,
abnormal circulating alkaline phosphatase level,
abnormal hypoglossal nerve topology,
abnormal incisor color,
abnormal liver vasculature morphology,
abnormal mineral level,
abnormal spine curvature,
abnormal vocalization,
absent pinna reflex,
calcified brain,
decreased body length,
decreased bone mineral content,
decreased fasting circulating glucose level,
ectopic cartilage,
embryo cyst,
embryo tumor,
eyelids fail to open,
fusion of vertebral arches,
increased circulating alkaline phosphatase level,
increased grip strength,
increased lean body mass,
irregularly shaped pupil,
microgliosis,
multiple persisting craniopharyngeal ducts,
preweaning lethality, incomplete penetrance,
small superior cervical ganglion,
subcutaneous edema
[+]
|
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.