Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
43 | ACHE | acetylcholinesterase (Yt blood group) | |
353 | APRT | adenine phosphoribosyltransferase | |
1581 | CYP7A1 | cytochrome P450 family 7 subfamily A member 1 | |
2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
2542 | SLC37A4 | solute carrier family 37 member 4 | |
2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
2992 | GYG1 | glycogenin 1 | |
2998 | GYS2 | glycogen synthase 2 | |
4190 | MDH1 | malate dehydrogenase 1 | |
5621 | PRNP | prion protein (Kanno blood group) |
UniProt ID | Protein Name | Source |
---|---|---|
P54840 | Glycogen [starch] synthase, liver | |
Q04446 | 1,4-alpha-glucan-branching enzyme |
HPO ID | HPO Term |
---|---|
HP:0001315 | Reduced tendon reflexes |
HP:0100543 | Cognitive impairment |
HP:0002062 | Abnormal pyramidal tract morphology |
HP:0001268 | Mental deterioration |
HP:0003401 | Paresthesia |
HP:0001824 | Weight loss |
HP:0001257 | Spasticity |
HP:0002354 | Memory impairment |
HP:0000716 | Depression |
HP:0002070 | Limb ataxia |
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