Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
353 | APRT | adenine phosphoribosyltransferase | |
411 | ARSB | arylsulfatase B | |
2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
2720 | GLB1 | galactosidase beta 1 | |
3423 | IDS | iduronate 2-sulfatase | |
3425 | IDUA | alpha-L-iduronidase | |
4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
6482 | ST3GAL1 | ST3 beta-galactoside alpha-2,3-sialyltransferase 1 | |
6483 | ST3GAL2 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | |
6484 | ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
UniProt ID | Protein Name | Source |
---|---|---|
Q8NBK3 | Formylglycine-generating enzyme |
HPO ID | HPO Term |
---|---|
HP:0003016 | Metaphyseal widening |
HP:0003049 | Ulnar deviation of the wrist |
HP:0003053 | Epiphyseal deformities of tubular bones |
HP:0003277 | Constricted iliac wing |
HP:0003300 | Ovoid vertebral bodies |
HP:0003307 | Hyperlordosis |
HP:0003308 | Cervical subluxation |
HP:0003311 | Hypoplasia of the odontoid process |
HP:0003521 | Disproportionate short-trunk short stature |
HP:0003593 | Infantile onset |
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