Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
175 | AGA | aspartylglucosaminidase | |
411 | ARSB | arylsulfatase B | |
847 | CAT | catalase | |
2517 | FUCA1 | alpha-L-fucosidase 1 | |
2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
2720 | GLB1 | galactosidase beta 1 | |
2799 | GNS | glucosamine (N-acetyl)-6-sulfatase | |
2990 | GUSB | glucuronidase beta | |
3423 | IDS | iduronate 2-sulfatase | |
3425 | IDUA | alpha-L-iduronidase |
HPO ID | HPO Term |
---|---|
HP:0004490 | Calvarial hyperostosis |
HP:0004586 | Biconcave vertebral bodies |
HP:0005019 | Diaphyseal undertubulation |
HP:0007759 | Opacification of the corneal stroma |
HP:0008301 | Dermatan sulfate excretion in urine |
HP:0008802 | Hypoplasia of the femoral head |
HP:0011400 | Abnormal CNS myelination |
HP:0012185 | Constrictive median neuropathy |
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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