Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
8692 | HYAL2 | hyaluronidase 2 | |
10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
10724 | OGA | O-GlcNAcase | |
22901 | ARSG | arylsulfatase G | |
79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma | |
138050 | HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase | |
159371 | SLC35G1 | solute carrier family 35 member G1 | |
285362 | SUMF1 | sulfatase modifying factor 1 | |
347527 | ARSH | arylsulfatase family member H |
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