mucolipidosis Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
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

3 genes involed in the disease mucolipidosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

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