Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
410 | ARSA | arylsulfatase A | |
2629 | GBA1 | glucosylceramidase beta 1 | |
2760 | GM2A | ganglioside GM2 activator | |
3073 | HEXA | hexosaminidase subunit alpha | |
3074 | HEXB | hexosaminidase subunit beta | |
10724 | OGA | O-GlcNAcase | |
10825 | NEU3 | neuraminidase 3 | |
284004 | HEXD | hexosaminidase D |
UniProt ID | Protein Name | Source |
---|---|---|
O60502 | Protein O-GlcNAcase | |
P04062 | Lysosomal acid glucosylceramidase | |
P06865 | Beta-hexosaminidase subunit alpha | |
P07686 | Beta-hexosaminidase subunit beta | |
P15289 | Arylsulfatase A | |
P17900 | Ganglioside GM2 activator |
HPO ID | HPO Term |
---|---|
HP:0001276 | Hypertonia |
HP:0010729 | Cherry red spot of the macula |
HP:0000741 | Apathy |
HP:0002421 | Poor head control |
HP:0000618 | Blindness |
HP:0002267 | Exaggerated startle response |
HP:0003495 | GM2-ganglioside accumulation |
HP:0001250 | Seizure |
HP:0000007 | Autosomal recessive inheritance |
HP:0001290 | Generalized hypotonia |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024