| Monarch Ortholog Phenotypes
|
Human (37 sources):
Abnormal cerebral white matter morphology,
Apraxia,
Ataxia,
Behavioral abnormality,
Bradykinesia,
CNS demyelination,
Cerebellar atrophy,
Dementia,
Depression,
Dysarthria,
Dystonia,
EEG abnormality,
Failure to thrive,
Frontal lobe dementia,
Generalized muscle weakness,
Gliosis,
Hyperreflexia,
Hypertrophic cardiomyopathy,
Increased serum lactate,
Lactic acidosis,
Leukoencephalopathy,
Loss of speech,
Memory impairment,
Mental deterioration,
Mutism,
Neurodegeneration,
Neuronal loss in central nervous system,
Nystagmus,
Periventricular leukomalacia,
Postural instability,
Premature ovarian insufficiency,
Progressive leukoencephalopathy,
Pulmonary hypoplasia,
Rigidity,
Shuffling gait,
Spasticity,
Tremor
[+]
|
|
Mouse (6 sources):
abnormal vocalization,
decreased embryo size,
decreased red blood cell distribution width,
embryonic lethality, complete penetrance,
no abnormal phenotype detected,
preweaning lethality, complete 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.