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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 |
|---|---|---|---|---|---|
| C0017921 | Glycogen storage disease type II | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0017921 | Glycogen storage disease type II | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0017921 | Glycogen storage disease type II | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0017921 | Glycogen storage disease type II | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0017921 | Glycogen storage disease type II | SI | 6476 | sucrase-isomaltase | P14410 |
| C0017921 | Glycogen storage disease type II | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0017921 | Glycogen storage disease type II | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0017921 | Glycogen storage disease type II | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0017922 | Glycogen Storage Disease Type III | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0017922 | Glycogen Storage Disease Type III | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0017922 | Glycogen Storage Disease Type III | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0017922 | Glycogen Storage Disease Type III | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0017922 | Glycogen Storage Disease Type III | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0017923 | Glycogen Storage Disease Type IV | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0017923 | Glycogen Storage Disease Type IV | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0017923 | Glycogen Storage Disease Type IV | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0017924 | Glycogen Storage Disease Type V | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0017924 | Glycogen Storage Disease Type V | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0017924 | Glycogen Storage Disease Type V | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0017924 | Glycogen Storage Disease Type V | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0017924 | Glycogen Storage Disease Type V | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0017924 | Glycogen Storage Disease Type V | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0017924 | Glycogen Storage Disease Type V | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0017925 | Glycogen Storage Disease Type VI | ENO2 | 2026 | enolase 2 | P09104 |
| C0017925 | Glycogen Storage Disease Type VI | PYGL | 5836 | glycogen phosphorylase L | P06737 |
