Galactosemia Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. (Human Disease Ontology, DOID_9870)
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Genes

3 genes involed in the disease Galactosemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
GALK1 galactokinase 1 5.0
GALT galactose-1-phosphate uridylyltransferase 5.0
GALE UDP-galactose-4-epimerase 5.0