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GNS mutants [lysosomal lumen]
Stable Identifier
R-HSA-2245240
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
lysosomal lumen
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
Mucopolysaccharidoses (Homo sapiens)
MPS IIID - Sanfilippo syndrome D (Homo sapiens)
Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S (Homo sapiens)
GNS mutants [lysosomal lumen] (Homo sapiens)
Participants
members
GNS Q272* [lysosomal lumen] (Homo sapiens)
GNS Q390* [lysosomal lumen] (Homo sapiens)
GNS R355* [lysosomal lumen] (Homo sapiens)
GNS S94I [lysosomal lumen] (Homo sapiens)
Disease
Name
Identifier
Synonyms
mucopolysaccharidosis
12798
Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
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