Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
2799 | GNS | glucosamine (N-acetyl)-6-sulfatase | |
3425 | IDUA | alpha-L-iduronidase | |
4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
51172 | NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | |
138050 | HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase |
UniProt ID | Protein Name | Source |
---|---|---|
P15586 | N-acetylglucosamine-6-sulfatase | |
P35475 | Alpha-L-iduronidase | |
P51688 | N-sulphoglucosamine sulphohydrolase | |
P54802 | Alpha-N-acetylglucosaminidase | |
Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase | |
Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
HPO ID | HPO Term |
---|---|
HP:0011463 | Childhood onset |
HP:0001007 | Hirsutism |
HP:0002159 | Heparan sulfate excretion in urine |
HP:0000007 | Autosomal recessive inheritance |
HP:0001249 | Intellectual disability |
HP:0002208 | Coarse hair |
HP:0000280 | Coarse facial features |
HP:0002788 | Recurrent upper respiratory tract infections |
HP:0000752 | Hyperactivity |
HP:0001670 | Asymmetric septal hypertrophy |
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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