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XB-GENEPAGE-974303
ethe1 ethylmalonic encephalopathy 1
Expression Phenotypes
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.
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Computed annotations: ethe1 assayed (3 sources) |
Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
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Human (25 sources): Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnormal pyramidal sign, Abnormal retinal vascular morphology, Abnormality of extrapyramidal motor function, Abnormality of the cardiovascular system, Acrocyanosis, Ataxia, Chronic diarrhea, Cytochrome C oxidase-negative muscle fibers, [+] |
Mouse (6 sources): abnormal blood homeostasis, abnormal mineral level, decreased locomotor activity, increased circulating lactate level, premature death, preweaning lethality, incomplete penetrance |
View all ortholog results at Monarch |