UniProt ID | Protein Name | Source |
---|---|---|
O60502 | Protein O-GlcNAcase | |
P06865 | Beta-hexosaminidase subunit alpha | |
P07686 | Beta-hexosaminidase subunit beta | |
P17900 | Ganglioside GM2 activator |
HPO ID | HPO Term |
---|---|
HP:0002180 | Neurodegeneration |
HP:0007256 | Abnormal pyramidal sign |
HP:0001332 | Dystonia |
HP:0010780 | Hyperacusis |
HP:0002376 | Developmental regression |
HP:0000739 | Anxiety |
HP:0009062 | Infantile axial hypotonia |
HP:0002267 | Exaggerated startle response |
HP:0100543 | Cognitive impairment |
HP:0002059 | Cerebral atrophy |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024