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XB-GENEPAGE-995579
rpia ribose 5-phosphate isomerase A
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 metabolism/homeostasis, Ataxia, Decreased level of erythritol in CSF, Decreased level of erythritol in urine, Dysarthria, Elevated circulating ribitol concentration, Global developmental delay, Incoordination, Increased level of D-threitol in CSF, Increased level of D-threitol in plasma, [+] |
Mouse (3 sources): decreased circulating free fatty acids level, decreased circulating glycerol level, preweaning lethality, complete penetrance |
View all ortholog results at Monarch |