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 |
---|---|---|
P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 | |
P32004 | Neural cell adhesion molecule L1 | |
P34059 | N-acetylgalactosamine-6-sulfatase | |
P35475 | Alpha-L-iduronidase | |
P38567 | Hyaluronidase PH-20 | |
P50443 | Sulfate transporter | |
P51688 | N-sulphoglucosamine sulphohydrolase | |
P54802 | Alpha-N-acetylglucosaminidase | |
Q12794 | Hyaluronidase-1 | |
Q12891 | Hyaluronidase-2 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000158 | Macroglossia |
HP:0000238 | Hydrocephalus |
HP:0000256 | Macrocephaly |
HP:0000268 | Dolichocephaly |
HP:0000280 | Coarse facial features |
HP:0000365 | Hearing impairment |
HP:0000501 | Glaucoma |
HP:0000670 | Carious teeth |
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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