Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
3423 | IDS | iduronate 2-sulfatase | |
3425 | IDUA | alpha-L-iduronidase | |
3897 | L1CAM | L1 cell adhesion molecule | |
4125 | MAN2B1 | mannosidase alpha class 2B member 1 | |
4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
4758 | NEU1 | neuraminidase 1 | |
4907 | NT5E | 5'-nucleotidase ecto | |
5476 | CTSA | cathepsin A | |
6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
6677 | SPAM1 | sperm adhesion molecule 1 |
UniProt ID | Protein Name | Source |
---|---|---|
P15813 | Antigen-presenting glycoprotein CD1d | |
P15848 | Arylsulfatase B | |
P16112 | Aggrecan core protein | |
P16278 | Beta-galactosidase | |
P16444 | Dipeptidase 1 | |
P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
P20933 | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase | |
P21589 | 5'-nucleotidase | |
P22304 | Iduronate 2-sulfatase | |
P27824 | Calnexin |
HPO ID | HPO Term |
---|---|
HP:0002938 | Lumbar hyperlordosis |
HP:0003016 | Metaphyseal widening |
HP:0003025 | Metaphyseal irregularity |
HP:0003274 | Hypoplastic acetabulae |
HP:0003300 | Ovoid vertebral bodies |
HP:0003311 | Hypoplasia of the odontoid process |
HP:0003521 | Disproportionate short-trunk short stature |
HP:0003593 | Infantile onset |
HP:0004322 | Short stature |
HP:0005180 | Tricuspid regurgitation |
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