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:0001269 | Hemiparesis |
HP:0000505 | Visual impairment |
HP:0002381 | Aphasia |
HP:0001317 | Abnormal cerebellum morphology |
HP:0000006 | Autosomal dominant inheritance |
HP:0002354 | Memory impairment |
HP:0003678 | Rapidly progressive |
HP:0007076 | Extrapyramidal muscular rigidity |
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
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024