Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1836 | SLC26A2 | solute carrier family 26 member 2 | |
2135 | EXTL2 | exostosin like glycosyltransferase 2 | |
2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
2517 | FUCA1 | alpha-L-fucosidase 1 | |
2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
2720 | GLB1 | galactosidase beta 1 | |
2799 | GNS | glucosamine (N-acetyl)-6-sulfatase | |
2990 | GUSB | glucuronidase beta | |
3373 | HYAL1 | hyaluronidase 1 |
UniProt ID | Protein Name | Source |
---|---|---|
O00754 | Lysosomal alpha-mannosidase | |
O43909 | Exostosin-like 3 | |
O60502 | Protein O-GlcNAcase | |
P04040 | Catalase | |
P04066 | Tissue alpha-L-fucosidase | |
P07741 | Adenine phosphoribosyltransferase | |
P08236 | Beta-glucuronidase | |
P10619 | Lysosomal protective protein | |
P15289 | Arylsulfatase A | |
P15586 | N-acetylglucosamine-6-sulfatase |
HPO ID | HPO Term |
---|---|
HP:0000708 | Atypical behavior |
HP:0000736 | Short attention span |
HP:0000822 | Hypertension |
HP:0000900 | Thickened ribs |
HP:0001085 | Papilledema |
HP:0001250 | Seizure |
HP:0001263 | Global developmental delay |
HP:0001268 | Mental deterioration |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0001324 | Muscle weakness |
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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