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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 |
|---|---|---|---|---|---|
| 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 |
| C0017919 | Glycogen Storage Disease | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0017919 | Glycogen Storage Disease | GLA | 2717 | galactosidase alpha | P06280 |
| C0017919 | Glycogen Storage Disease | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0017919 | Glycogen Storage Disease | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0017919 | Glycogen Storage Disease | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0017919 | Glycogen Storage Disease | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0017919 | Glycogen Storage Disease | ENO3 | 2027 | enolase 3 | P13929 |
| C0017919 | Glycogen Storage Disease | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0017919 | Glycogen Storage Disease | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0017919 | Glycogen Storage Disease | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0017919 | Glycogen Storage Disease | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0017919 | Glycogen Storage Disease | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0017919 | Glycogen Storage Disease | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0017919 | Glycogen Storage Disease | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0017919 | Glycogen Storage Disease | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0017919 | Glycogen Storage Disease | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| 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 |
