Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
5476 | CTSA | cathepsin A | |
6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
6677 | SPAM1 | sperm adhesion molecule 1 | |
8692 | HYAL2 | hyaluronidase 2 | |
10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
10724 | OGA | O-GlcNAcase | |
22901 | ARSG | arylsulfatase G | |
51172 | NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | |
79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma |
UniProt ID | Protein Name | Source |
---|---|---|
P28329 | Choline O-acetyltransferase | |
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 |
HPO ID | HPO Term |
---|---|
HP:0001744 | Splenomegaly |
HP:0001761 | Pes cavus |
HP:0001771 | Achilles tendon contracture |
HP:0002007 | Frontal bossing |
HP:0002014 | Diarrhea |
HP:0002015 | Dysphagia |
HP:0002159 | Heparan sulfate excretion in urine |
HP:0002208 | Coarse hair |
HP:0002240 | Hepatomegaly |
HP:0002307 | Drooling |
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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