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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 |
|---|---|---|---|---|---|
| C0282577 | Congenital Disorders of Glycosylation | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0282577 | Congenital Disorders of Glycosylation | STT3A | 3703 | STT3 oligosaccharyltransferase complex catalytic subunit A | P46977 |
| C0282577 | Congenital Disorders of Glycosylation | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0282577 | Congenital Disorders of Glycosylation | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C0282577 | Congenital Disorders of Glycosylation | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0282577 | Congenital Disorders of Glycosylation | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0282577 | Congenital Disorders of Glycosylation | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0282577 | Congenital Disorders of Glycosylation | DCN | 1634 | decorin | P07585 |
| C0282577 | Congenital Disorders of Glycosylation | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0282577 | Congenital Disorders of Glycosylation | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0282577 | Congenital Disorders of Glycosylation | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C0282577 | Congenital Disorders of Glycosylation | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0282577 | Congenital Disorders of Glycosylation | SI | 6476 | sucrase-isomaltase | P14410 |
| C0282577 | Congenital Disorders of Glycosylation | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C0282577 | Congenital Disorders of Glycosylation | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0282577 | Congenital Disorders of Glycosylation | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0282577 | Congenital Disorders of Glycosylation | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0282577 | Congenital Disorders of Glycosylation | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0282577 | Congenital Disorders of Glycosylation | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0282577 | Congenital Disorders of Glycosylation | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0546264 | Congenital Fiber Type Disproportion | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0546264 | Congenital Fiber Type Disproportion | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0546264 | Congenital Fiber Type Disproportion | FKTN | 2218 | fukutin | O75072 |
| C0546264 | Congenital Fiber Type Disproportion | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0546264 | Congenital Fiber Type Disproportion | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
