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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00147 | Sialuria | ... storage disorder (ISSD) are rare autosomal recessive lysosomal storage diseases caused by mutations in SLC17A5 gene which codes for the protein sialin. Sialin is lysosomal membrane transporter that exports ... | Inherited metabolic disorder, Lysosomal disease |
(SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301] (French type) GNE [HSA:10020] [KO:K12409] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |