galactose epimerase deficiency Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism. (Orphanet Rare Disease Ontology, Orphanet_79238)
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1 genes associated with the galactose epimerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
GALE UDP-galactose-4-epimerase