Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
3423 | IDS | iduronate 2-sulfatase | |
3425 | IDUA | alpha-L-iduronidase | |
3482 | IGF2R | insulin like growth factor 2 receptor | |
4758 | NEU1 | neuraminidase 1 | |
5333 | PLCD1 | phospholipase C delta 1 | |
5335 | PLCG1 | phospholipase C gamma 1 | |
5476 | CTSA | cathepsin A | |
10724 | OGA | O-GlcNAcase | |
51172 | NAGPA | 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 |
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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