|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. (Human Phenotype Ontology, HP_0003264)|
|Downloads & Tools|
1 genes associated with the deficiency of n-acetylglucosamine-1-phosphotransferase phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
|GNPTAB||N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits|