Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1800 | DPEP1 | dipeptidase 1 | |
1836 | SLC26A2 | solute carrier family 26 member 2 | |
2131 | EXT1 | exostosin glycosyltransferase 1 | |
2132 | EXT2 | exostosin glycosyltransferase 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 |
UniProt ID | Protein Name | Source |
---|---|---|
Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
HPO ID | HPO Term |
---|---|
HP:0000369 | Low-set ears |
HP:0000403 | Recurrent otitis media |
HP:0000463 | Anteverted nares |
HP:0000470 | Short neck |
HP:0000490 | Deeply set eye |
HP:0000505 | Visual impairment |
HP:0000574 | Thick eyebrow |
HP:0000662 | Nyctalopia |
HP:0000664 | Synophrys |
HP:0000711 | Restlessness |
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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