I cell disease Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. (Orphanet Rare Disease Ontology, Orphanet_576)
External Link http://www.omim.org/entry/252500
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1 genes associated with the I cell disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits