Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
175 | AGA | aspartylglucosaminidase | |
1118 | CHIT1 | chitinase 1 | |
1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
2517 | FUCA1 | alpha-L-fucosidase 1 | |
2720 | GLB1 | galactosidase beta 1 | |
3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
4125 | MAN2B1 | mannosidase alpha class 2B member 1 | |
4758 | NEU1 | neuraminidase 1 | |
5476 | CTSA | cathepsin A |
UniProt ID | Protein Name | Source |
---|---|---|
O00754 | Lysosomal alpha-mannosidase | |
P00492 | Hypoxanthine-guanine phosphoribosyltransferase | |
P04066 | Tissue alpha-L-fucosidase | |
P10619 | Lysosomal protective protein | |
P16278 | Beta-galactosidase | |
P20933 | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase | |
Q13231 | Chitotriosidase-1 | |
Q99519 | Sialidase-1 |
HPO ID | HPO Term |
---|---|
HP:0001640 | Cardiomegaly |
HP:0001063 | Acrocyanosis |
HP:0007256 | Abnormal pyramidal sign |
HP:0000365 | Hearing impairment |
HP:0002808 | Kyphosis |
HP:0010864 | Intellectual disability, severe |
HP:0001263 | Global developmental delay |
HP:0000248 | Brachycephaly |
HP:0002240 | Hepatomegaly |
HP:0008155 | Mucopolysacchariduria |
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
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024