Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
410 | ARSA | arylsulfatase A | |
427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
1118 | CHIT1 | chitinase 1 | |
2581 | GALC | galactosylceramidase | |
2720 | GLB1 | galactosidase beta 1 | |
3425 | IDUA | alpha-L-iduronidase | |
3482 | IGF2R | insulin like growth factor 2 receptor | |
5319 | PLA2G1B | phospholipase A2 group IB | |
5660 | PSAP | prosaposin | |
8560 | DEGS1 | delta 4-desaturase, sphingolipid 1 |
UniProt ID | Protein Name | Source |
---|---|---|
O15121 | Sphingolipid delta(4)-desaturase DES1 | |
P07602 | Prosaposin | |
P11717 | Cation-independent mannose-6-phosphate receptor | |
P15289 | Arylsulfatase A | |
P16278 | Beta-galactosidase | |
P35475 | Alpha-L-iduronidase | |
P54803 | Galactocerebrosidase | |
Q13231 | Chitotriosidase-1 | |
Q13510 | Acid ceramidase | |
Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
HPO ID | HPO Term |
---|---|
HP:0003487 | Babinski sign |
HP:0003547 | Shoulder girdle muscle weakness |
HP:0003552 | Muscle stiffness |
HP:0004302 | Functional motor deficit |
HP:0004326 | Cachexia |
HP:0004466 | Delayed brainstem auditory evoked response conduction time |
HP:0005968 | Temperature instability |
HP:0006801 | Hyperactive deep tendon reflexes |
HP:0007018 | Attention deficit hyperactivity disorder |
HP:0007103 | Hypointensity of cerebral white matter on MRI |
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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