Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
2548 | GAA | alpha glucosidase | |
2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
2998 | GYS2 | glycogen synthase 2 | |
5836 | PYGL | glycogen phosphorylase L |
UniProt ID | Protein Name | Source |
---|---|---|
P06737 | Glycogen phosphorylase, liver form | |
P10253 | Lysosomal alpha-glucosidase | |
P35573 | Glycogen debranching enzyme | |
P35575 | Glucose-6-phosphatase catalytic subunit 1 | |
P54840 | Glycogen [starch] synthase, liver | |
Q04446 | 1,4-alpha-glucan-branching enzyme |
HPO ID | HPO Term |
---|---|
HP:0002155 | Hypertriglyceridemia |
HP:0001256 | Intellectual disability, mild |
HP:0003198 | Myopathy |
HP:0000293 | Full cheeks |
HP:0002721 | Immunodeficiency |
HP:0004322 | Short stature |
HP:0001943 | Hypoglycemia |
HP:0001395 | Hepatic fibrosis |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0000272 | Malar flattening |
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
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024