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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |