Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
353 | APRT | adenine phosphoribosyltransferase | |
811 | CALR | calreticulin | |
1118 | CHIT1 | chitinase 1 | |
1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
1717 | DHCR7 | 7-dehydrocholesterol reductase | |
1798 | DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | |
2519 | FUCA2 | alpha-L-fucosidase 2 | |
2720 | GLB1 | galactosidase beta 1 | |
2990 | GUSB | glucuronidase beta | |
3073 | HEXA | hexosaminidase subunit alpha |
UniProt ID | Protein Name | Source |
---|---|---|
Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
HPO ID | HPO Term |
---|---|
HP:0010655 | Epiphyseal stippling |
HP:0001922 | Vacuolated lymphocytes |
HP:0000282 | Facial edema |
HP:0001638 | Cardiomyopathy |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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