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XB-GENEPAGE-953784
bckdhb branched chain keto acid dehydrogenase E1, beta polypeptide
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: bckdhb assayed (2 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): Abnormality of the pharynx, Abnormality of the voice, Ataxia, Cerebral edema, Coma, Elevated plasma branched chain amino acids, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth abnormality, [+] |
Mouse (2 sources): abnormal abdominal wall morphology, preweaning lethality, complete penetrance |
View all ortholog results at Monarch |