Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1636 | ACE | angiotensin I converting enzyme | |
1718 | DHCR24 | 24-dehydrocholesterol reductase | |
2023 | ENO1 | enolase 1 | |
2026 | ENO2 | enolase 2 | |
2220 | FCN2 | ficolin 2 | |
2539 | G6PD | glucose-6-phosphate dehydrogenase | |
2581 | GALC | galactosylceramidase | |
2821 | GPI | glucose-6-phosphate isomerase | |
3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
3425 | IDUA | alpha-L-iduronidase |
UniProt ID | Protein Name | Source |
---|---|---|
Q9BT22 | Chitobiosyldiphosphodolichol beta-mannosyltransferase | |
Q9P2R7 | Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial | |
Q9Y6A2 | Cholesterol 24-hydroxylase |
HPO ID | HPO Term |
---|---|
HP:0002067 | Bradykinesia |
HP:0002072 | Chorea |
HP:0002073 | Progressive cerebellar ataxia |
HP:0002283 | Global brain atrophy |
HP:0002312 | Clumsiness |
HP:0002401 | Stroke-like episode |
HP:0002446 | Astrocytosis |
HP:0002464 | Spastic dysarthria |
HP:0002529 | Neuronal loss in central nervous system |
HP:0002922 | Increased CSF protein concentration |
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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