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Entry Name Description Category Pathway Gene
H00142 Sialidosis
Mucolipidosis I
Sialidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of sialidase (neuraminidase). The enzymatic defect results in the accumulation of sialidated glycopeptides and ... Inherited metabolic disorder, Lysosomal disease NEU1 [HSA:4758] [KO:K01186]
H00422 Glycoproteinoses Glycoproteinoses are a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes that play important roles in the degradation of glycoproteins such as N-linked or ... Inherited metabolic disorder, Lysosomal disease (Sialidosis) NEU1 [HSA:4758] [KO:K01186]
(GSL) CTSA [HSA:5476] [KO:K13289]
(MANSA) MAN2B1 [HSA:4125] [KO:K12311]
(MANSB) MANBA [HSA:4126] [KO:K01192]
(AGU) AGA [HSA:175] [KO:K01444]
(Fucosidosis) FUCA1 [HSA:2517] [KO:K01206]
(Schindler/ Kanzaki) NAGA [HSA:4668] [KO:K01204]
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