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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 | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0282577 | Congenital Disorders of Glycosylation | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0282577 | Congenital Disorders of Glycosylation | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0282577 | Congenital Disorders of Glycosylation | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0282577 | Congenital Disorders of Glycosylation | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0282577 | Congenital Disorders of Glycosylation | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0282577 | Congenital Disorders of Glycosylation | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0282577 | Congenital Disorders of Glycosylation | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0282577 | Congenital Disorders of Glycosylation | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0282577 | Congenital Disorders of Glycosylation | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0282577 | Congenital Disorders of Glycosylation | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0282577 | Congenital Disorders of Glycosylation | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0282577 | Congenital Disorders of Glycosylation | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0282577 | Congenital Disorders of Glycosylation | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0282577 | Congenital Disorders of Glycosylation | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0282577 | Congenital Disorders of Glycosylation | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| 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 |
