Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
410 | ARSA | arylsulfatase A | |
411 | ARSB | arylsulfatase B | |
412 | STS | steroid sulfatase | |
2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
2581 | GALC | galactosylceramidase | |
2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
2629 | GBA1 | glucosylceramidase beta 1 | |
2720 | GLB1 | galactosidase beta 1 | |
3423 | IDS | iduronate 2-sulfatase | |
5660 | PSAP | prosaposin |
UniProt ID | Protein Name | Source |
---|---|---|
O15121 | Sphingolipid delta(4)-desaturase DES1 | |
P04062 | Lysosomal acid glucosylceramidase | |
P07602 | Prosaposin | |
P08842 | Steryl-sulfatase | |
P15289 | Arylsulfatase A | |
P15848 | Arylsulfatase B | |
P16278 | Beta-galactosidase | |
P17405 | Sphingomyelin phosphodiesterase | |
P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
P22304 | Iduronate 2-sulfatase |
HPO ID | HPO Term |
---|---|
HP:0002483 | Bulbar signs |
HP:0002607 | Bowel incontinence |
HP:0002922 | Increased CSF protein concentration |
HP:0003270 | Abdominal distention |
HP:0003444 | EMG: chronic denervation signs |
HP:0003487 | Babinski sign |
HP:0004343 | Abnormal glycosphingolipid metabolism |
HP:0004926 | Orthostatic hypotension due to autonomic dysfunction |
HP:0007133 | Progressive peripheral neuropathy |
HP:0007240 | Progressive gait ataxia |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024