Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
410 | ARSA | arylsulfatase A | |
2720 | GLB1 | galactosidase beta 1 | |
2760 | GM2A | ganglioside GM2 activator | |
3073 | HEXA | hexosaminidase subunit alpha | |
3074 | HEXB | hexosaminidase subunit beta | |
7357 | UGCG | UDP-glucose ceramide glucosyltransferase | |
10724 | OGA | O-GlcNAcase | |
284004 | HEXD | hexosaminidase D |
UniProt ID | Protein Name | Source |
---|---|---|
O60502 | Protein O-GlcNAcase | |
P06865 | Beta-hexosaminidase subunit alpha | |
P07686 | Beta-hexosaminidase subunit beta | |
P15289 | Arylsulfatase A | |
P16278 | Beta-galactosidase | |
P17900 | Ganglioside GM2 activator |
HPO ID | HPO Term |
---|---|
HP:0000618 | Blindness |
HP:0003819 | Death in childhood |
HP:0001278 | Orthostatic hypotension |
HP:0010829 | Impaired temperature sensation |
HP:0001640 | Cardiomegaly |
HP:0002574 | Episodic abdominal pain |
HP:0000007 | Autosomal recessive inheritance |
HP:0002028 | Chronic diarrhea |
HP:0000158 | Macroglossia |
HP:0001252 | Hypotonia |
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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