| Monarch Ortholog Phenotypes
|
Human (30 sources):
Ankle clonus,
Axial hypotonia,
Babinski sign,
Bradykinesia,
Bulbar signs,
Cerebellar atrophy,
Cerebral atrophy,
Developmental regression,
Dyskinesia,
Dystonia,
Flexion contracture,
Gait disturbance,
Global developmental delay,
Hyperintensity of cerebral white matter on MRI,
Hypermanganesemia,
Hyperreflexia,
Hypomimic face,
Infantile axial hypotonia,
Intellectual disability,
Loss of ambulation,
Multiple joint contractures,
Oromandibular dystonia,
Parkinsonism,
Poor speech,
Progressive microcephaly,
Scissor gait,
Scoliosis,
Secondary microcephaly,
Spasticity,
Tremor
[+]
|
Mouse (34 sources):
abnormal chondrocyte differentiation,
abnormal gluconeogenesis,
abnormal growth hormone level,
abnormal liver zinc level,
abnormal osteoblast physiology,
craniofacial phenotype,
decreased body size,
decreased bone mineralization,
decreased bone ossification,
decreased bone stiffness,
decreased bone trabecula number,
decreased bone trabecular spacing,
decreased bone volume,
decreased circulating insulin-like growth factor I level,
decreased diameter of femur,
decreased diameter of tibia,
decreased hepatocyte proliferation,
decreased liver weight,
decreased trabecular bone connectivity density,
decreased trabecular bone mass,
decreased trabecular bone volume,
impaired liver regeneration,
increased bone mineralization,
increased bone ossification,
increased bone trabecula number,
increased bone trabecular spacing,
increased circulating alanine transaminase level,
increased femur compact bone thickness,
increased osteoclast cell number,
increased trabecular bone thickness,
increased trabecular bone volume,
preweaning lethality, incomplete penetrance,
skeleton phenotype,
torticollis
[+]
|
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.