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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 | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0282577 | Congenital Disorders of Glycosylation | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0282577 | Congenital Disorders of Glycosylation | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0282577 | Congenital Disorders of Glycosylation | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0282577 | Congenital Disorders of Glycosylation | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0282577 | Congenital Disorders of Glycosylation | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0282577 | Congenital Disorders of Glycosylation | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0282577 | Congenital Disorders of Glycosylation | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0282577 | Congenital Disorders of Glycosylation | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| 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 |
