mucolipidosis Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (Human Disease Ontology, DOID_3343)
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Genes

4 genes co-occuring with the biological term mucolipidosis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
MCOLN1 mucolipin 1
NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase