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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0017919 | Glycogen Storage Disease | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0017919 | Glycogen Storage Disease | G6PC2 | 57818 | glucose-6-phosphatase catalytic subunit 2 | Q9NQR9 |
| C0017919 | Glycogen Storage Disease | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0017919 | Glycogen Storage Disease | GYG2 | 8908 | glycogenin 2 | O15488 |
| C0017919 | Glycogen Storage Disease | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0017919 | Glycogen Storage Disease | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0017919 | Glycogen Storage Disease | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0017919 | Glycogen Storage Disease | SI | 6476 | sucrase-isomaltase | P14410 |
| C0017919 | Glycogen Storage Disease | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0017919 | Glycogen Storage Disease | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0017919 | Glycogen Storage Disease | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0017919 | Glycogen Storage Disease | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0017919 | Glycogen Storage Disease | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0017920 | Glycogen Storage Disease Type I | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0017920 | Glycogen Storage Disease Type I | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0017920 | Glycogen Storage Disease Type I | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0017920 | Glycogen Storage Disease Type I | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0017920 | Glycogen Storage Disease Type I | LPL | 4023 | lipoprotein lipase | P06858 |
| C0017920 | Glycogen Storage Disease Type I | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0017921 | Glycogen storage disease type II | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0017921 | Glycogen storage disease type II | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0017921 | Glycogen storage disease type II | GALC | 2581 | galactosylceramidase | P54803 |
| C0017921 | Glycogen storage disease type II | GLA | 2717 | galactosidase alpha | P06280 |
| C0017921 | Glycogen storage disease type II | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0017921 | Glycogen storage disease type II | IDUA | 3425 | alpha-L-iduronidase | P35475 |
